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Page 1
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
Takada S, Weitering TJ, van Os NJH, Du L, Pico-Knijnenburg I, Kuipers TB, Mei H, Salzer E, Willemsen MAAP, Weemaes CMR, Pan-Hammarstrom Q, van der Burg M. Takada S, et al. Among authors: van os njh, van der burg m. J Allergy Clin Immunol. 2024 May;153(5):1392-1405. doi: 10.1016/j.jaci.2023.12.029. Epub 2024 Jan 26. J Allergy Clin Immunol. 2024. PMID: 38280573 Free article.
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
Noordzij JG, Verkaik NS, van der Burg M, van Veelen LR, de Bruin-Versteeg S, Wiegant W, Vossen JM, Weemaes CM, de Groot R, Zdzienicka MZ, van Gent DC, van Dongen JJ. Noordzij JG, et al. Among authors: van dongen jj, van gent dc, van veelen lr, van der burg m. Blood. 2003 Feb 15;101(4):1446-52. doi: 10.1182/blood-2002-01-0187. Epub 2002 Oct 24. Blood. 2003. PMID: 12406895 Free article.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: van der maarel sm, van tol mj, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ, Ijspeert H, Weemaes CM, Haraldsson Á, Trip M, Warris A, van der Flier M, Wulffraat N, Verhagen MM, Taylor MA, van Zelm MC, van Dongen JJ, van Deuren M, van der Burg M. Driessen GJ, et al. Among authors: van dongen jj, van der flier m, van der burg m, van zelm mc, van deuren m. J Allergy Clin Immunol. 2013 May;131(5):1367-75.e9. doi: 10.1016/j.jaci.2013.01.053. Epub 2013 Apr 6. J Allergy Clin Immunol. 2013. PMID: 23566627
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.
Felgentreff K, Du L, Weinacht KG, Dobbs K, Bartish M, Giliani S, Schlaeger T, DeVine A, Schambach A, Woodbine LJ, Davies G, Baxi SN, van der Burg M, Bleesing J, Gennery A, Manis J, Pan-Hammarström Q, Notarangelo LD. Felgentreff K, et al. Among authors: van der burg m. Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8889-94. doi: 10.1073/pnas.1323649111. Epub 2014 Jun 2. Proc Natl Acad Sci U S A. 2014. PMID: 24889605 Free PMC article.
Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency.
IJspeert H, Wentink M, van Zessen D, Driessen GJ, Dalm VA, van Hagen MP, Pico-Knijnenburg I, Simons EJ, van Dongen JJ, Stubbs AP, van der Burg M. IJspeert H, et al. Among authors: van dongen jj, van zessen d, van hagen mp, van der burg m. Front Immunol. 2015 Apr 8;6:157. doi: 10.3389/fimmu.2015.00157. eCollection 2015. Front Immunol. 2015. PMID: 25904919 Free PMC article. Review.
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, Tezcan I, Reisli I, Mejstrikova E, de Villartay JP, Sleckman BP, Manis J, Notarangelo LD. Felgentreff K, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2015 Jul;136(1):140-150.e7. doi: 10.1016/j.jaci.2015.03.005. Epub 2015 Apr 25. J Allergy Clin Immunol. 2015. PMID: 25917813 Free PMC article.
Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells.
Wiekmeijer AS, Pike-Overzet K, IJspeert H, Brugman MH, Wolvers-Tettero IL, Lankester AC, Bredius RG, van Dongen JJ, Fibbe WE, Langerak AW, van der Burg M, Staal FJ. Wiekmeijer AS, et al. Among authors: van dongen jj, van der burg m. J Allergy Clin Immunol. 2016 Feb;137(2):517-526.e3. doi: 10.1016/j.jaci.2015.08.022. Epub 2015 Oct 4. J Allergy Clin Immunol. 2016. PMID: 26441229
DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells.
Björkman A, Du L, Felgentreff K, Rosner C, Pankaj Kamdar R, Kokaraki G, Matsumoto Y, Davies EG, van der Burg M, Notarangelo LD, Hammarström L, Pan-Hammarström Q. Björkman A, et al. Among authors: van der burg m. J Immunol. 2015 Dec 15;195(12):5608-15. doi: 10.4049/jimmunol.1501633. Epub 2015 Nov 6. J Immunol. 2015. PMID: 26546606
XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.
IJspeert H, Rozmus J, Schwarz K, Warren RL, van Zessen D, Holt RA, Pico-Knijnenburg I, Simons E, Jerchel I, Wawer A, Lorenz M, Patıroğlu T, Akar HH, Leite R, Verkaik NS, Stubbs AP, van Gent DC, van Dongen JJ, van der Burg M. IJspeert H, et al. Among authors: van dongen jj, van gent dc, van zessen d, van der burg m. Blood. 2016 Aug 4;128(5):650-9. doi: 10.1182/blood-2016-02-701029. Epub 2016 Jun 8. Blood. 2016. PMID: 27281794 Free PMC article.
Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.
Driessen GJ, IJspeert H, Wentink M, Yntema HG, van Hagen PM, van Strien A, Bucciol G, Cogulu O, Trip M, Nillesen W, Peeters EA, Pico-Knijnenburg I, Barendregt BH, Rizzi M, van Dongen JJ, Kutukculer N, van der Burg M. Driessen GJ, et al. Among authors: van hagen pm, van dongen jj, van der burg m, van strien a. J Allergy Clin Immunol. 2016 Dec;138(6):1744-1747.e5. doi: 10.1016/j.jaci.2016.07.010. Epub 2016 Aug 13. J Allergy Clin Immunol. 2016. PMID: 27531073 No abstract available.
Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.
Wentink M, Dalm V, Lankester AC, van Schouwenburg PA, Schölvinck L, Kalina T, Zachova R, Sediva A, Lambeck A, Pico-Knijnenburg I, van Dongen JJ, Pac M, Bernatowska E, van Hagen M, Driessen G, van der Burg M. Wentink M, et al. Among authors: van dongen jj, van schouwenburg pa, van hagen m, van der burg m. Clin Immunol. 2017 Mar;176:77-86. doi: 10.1016/j.clim.2017.01.004. Epub 2017 Jan 17. Clin Immunol. 2017. PMID: 28104464
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.
Björkman A, Du L, van der Burg M, Cormier-Daire V, Borck G, Pié J, Anderlid BM, Hammarström L, Ström L, de Villartay JP, Kipling D, Dunn Walters D, Pan-Hammarström Q. Björkman A, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2018 Jan;141(1):408-411.e8. doi: 10.1016/j.jaci.2017.06.043. Epub 2017 Aug 5. J Allergy Clin Immunol. 2018. PMID: 28826797 Free article. No abstract available.
Deficiencies in the CD19 complex.
Wentink MWJ, van Zelm MC, van Dongen JJM, Warnatz K, van der Burg M. Wentink MWJ, et al. Among authors: van dongen jjm, van der burg m, van zelm mc. Clin Immunol. 2018 Oct;195:82-87. doi: 10.1016/j.clim.2018.07.017. Epub 2018 Jul 31. Clin Immunol. 2018. PMID: 30075290 Review.
Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification.
van Schouwenburg PA, IJspeert H, Pico-Knijnenburg I, Dalm VASH, van Hagen PM, van Zessen D, Stubbs AP, Patel SY, van der Burg M. van Schouwenburg PA, et al. Among authors: van hagen pm, van zessen d, van der burg m. Front Immunol. 2018 Nov 23;9:2545. doi: 10.3389/fimmu.2018.02545. eCollection 2018. Front Immunol. 2018. PMID: 30532750 Free PMC article.
Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies.
Blanco E, Pérez-Andrés M, Arriba-Méndez S, Serrano C, Criado I, Del Pino-Molina L, Silva S, Madruga I, Bakardjieva M, Martins C, Serra-Caetano A, Romero A, Contreras-Sanfeliciano T, Bonroy C, Sala F, Martín A, Bastida JM, Lorente F, Prieto C, Dávila I, Marcos M, Kalina T, Vlkova M, Chovancova Z, Cordeiro AI, Philippé J, Haerynck F, López-Granados E, Sousa AE, van der Burg M, van Dongen JJM, Orfao A; EuroFlow PID group. Blanco E, et al. Among authors: van dongen jjm, van der burg m. J Allergy Clin Immunol. 2019 Sep;144(3):809-824. doi: 10.1016/j.jaci.2019.02.017. Epub 2019 Feb 28. J Allergy Clin Immunol. 2019. PMID: 30826363 Free article.
Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
Conde CD, Petronczki ÖY, Baris S, Willmann KL, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Förster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martínez J, Loizou JI, Ozen A, van der Burg M, Boztug K. Conde CD, et al. Among authors: van der burg m. J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903. J Clin Invest. 2019. PMID: 31449058 Free PMC article.
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.
IJspeert H, van Schouwenburg PA, Pico-Knijnenburg I, Loeffen J, Brugieres L, Driessen GJ, Blattmann C, Suerink M, Januszkiewicz-Lewandowska D, Azizi AA, Seidel MG, Jacobs H, van der Burg M. IJspeert H, et al. Among authors: van schouwenburg pa, van der burg m. Front Immunol. 2019 Aug 27;10:1913. doi: 10.3389/fimmu.2019.01913. eCollection 2019. Front Immunol. 2019. PMID: 31507588 Free PMC article.
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
Kalina T, Bakardjieva M, Blom M, Perez-Andres M, Barendregt B, Kanderová V, Bonroy C, Philippé J, Blanco E, Pico-Knijnenburg I, Paping JHMP, Wolska-Kuśnierz B, Pac M, Tkazcyk J, Haerynck F, Akar HH, Formánková R, Freiberger T, Svatoň M, Šedivá A, Arriba-Méndez S, Orfao A, van Dongen JJM, van der Burg M. Kalina T, et al. Among authors: van dongen jjm, van der burg m. Front Immunol. 2020 Mar 19;11:371. doi: 10.3389/fimmu.2020.00371. eCollection 2020. Front Immunol. 2020. PMID: 32265901 Free PMC article.
Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency.
Grosserichter-Wagener C, Franco-Gallego A, Ahmadi F, Moncada-Vélez M, Dalm VA, Rojas JL, Orrego JC, Correa Vargas N, Hammarström L, Schreurs MW, Dik WA, van Hagen PM, Boon L, van Dongen JJ, van der Burg M, Pan-Hammarström Q, Franco JL, van Zelm MC. Grosserichter-Wagener C, et al. Among authors: van hagen pm, van dongen jj, van der burg m, van zelm mc. Clin Transl Immunology. 2020 Apr 29;9(5):e1130. doi: 10.1002/cti2.1130. eCollection 2020 May. Clin Transl Immunology. 2020. PMID: 32355559 Free PMC article.
Protein functionality as a potential bottleneck for somatic revertant variants.
Kaiser FMP, Reisli I, Pico-Knijnenburg I, Langerak AW, Kavelaars FG, Artac H, IJspeert H, van der Burg M. Kaiser FMP, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2021 Jan;147(1):391-393.e8. doi: 10.1016/j.jaci.2020.04.045. Epub 2020 May 15. J Allergy Clin Immunol. 2021. PMID: 32422145 Free article. No abstract available.
Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome.
Helfricht A, Thijssen PE, Rother MB, Shah RG, Du L, Takada S, Rogier M, Moritz J, IJspeert H, Stoepker C, van Ostaijen-Ten Dam MM, Heyer V, Luijsterburg MS, de Groot A, Jak R, Grootaers G, Wang J, Rao P, Vertegaal ACO, van Tol MJD, Pan-Hammarström Q, Reina-San-Martin B, Shah GM, van der Burg M, van der Maarel SM, van Attikum H. Helfricht A, et al. Among authors: van tol mjd, van der maarel sm, van ostaijen ten dam mm, van der burg m, van attikum h. J Exp Med. 2020 Nov 2;217(11):e20191688. doi: 10.1084/jem.20191688. J Exp Med. 2020. PMID: 32865561 Free PMC article.
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA. Garrelfs MR, et al. Among authors: van de warrenburg b, van gaalen j, van der burg m. Pediatr Neurol. 2020 Dec;113:26-32. doi: 10.1016/j.pediatrneurol.2020.07.014. Epub 2020 Jul 28. Pediatr Neurol. 2020. PMID: 32980744 Free article.
ATM: Translating the DNA Damage Response to Adaptive Immunity.
Weitering TJ, Takada S, Weemaes CMR, van Schouwenburg PA, van der Burg M. Weitering TJ, et al. Among authors: van schouwenburg pa, van der burg m. Trends Immunol. 2021 Apr;42(4):350-365. doi: 10.1016/j.it.2021.02.001. Epub 2021 Mar 1. Trends Immunol. 2021. PMID: 33663955 Review.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K. Haimel M, et al. Among authors: van daele p, van der burg m, van gijn m. J Allergy Clin Immunol. 2022 Jan;149(1):369-378. doi: 10.1016/j.jaci.2021.04.033. Epub 2021 May 12. J Allergy Clin Immunol. 2022. PMID: 33991581 Free PMC article.
Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS).
Verhoeven D, Schonenberg-Meinema D, Ebstein F, Papendorf JJ, Baars PA, van Leeuwen EMM, Jansen MH, Lankester AC, van der Burg M, Florquin S, Maas SM, van Koningsbruggen S, Krüger E, van den Berg JM, Kuijpers TW. Verhoeven D, et al. Among authors: van leeuwen emm, van den berg jm, van der burg m, van koningsbruggen s. J Allergy Clin Immunol. 2022 Mar;149(3):1120-1127.e8. doi: 10.1016/j.jaci.2021.07.039. Epub 2021 Aug 17. J Allergy Clin Immunol. 2022. PMID: 34416217 Free article.
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Riquelme J, Takada S, van Dijk T, Peña F, Boogaard MW, van Duyvenvoorde HA, Pico-Knijnenburg I, Wit JM, van der Burg M, Mericq V, Losekoot M. Riquelme J, et al. Among authors: van duyvenvoorde ha, van dijk t, van der burg m. Horm Res Paediatr. 2021;94(11-12):448-455. doi: 10.1159/000520410. Epub 2021 Oct 27. Horm Res Paediatr. 2021. PMID: 34706368
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
Framme JL, Lundqvist C, Lundell AC, van Schouwenburg PA, Lemarquis AL, Thörn K, Lindgren S, Gudmundsdottir J, Lundberg V, Degerman S, Zetterström RH, Borte S, Hammarström L, Telemo E, Hultdin M, van der Burg M, Fasth A, Oskarsdóttir S, Ekwall O. Framme JL, et al. Among authors: van schouwenburg pa, van der burg m. J Clin Immunol. 2022 Apr;42(3):618-633. doi: 10.1007/s10875-021-01201-5. Epub 2022 Jan 26. J Clin Immunol. 2022. PMID: 35080750 Free PMC article.
AKT Hyperphosphorylation and T Cell Exhaustion in Down Syndrome.
Peeters D, Pico-Knijnenburg I, Wieringa D, Rad M, Cuperus R, Ruige M, Froeling F, Zijp GW, van der Burg M, Driessen GJA. Peeters D, et al. Among authors: van der burg m. Front Immunol. 2022 Feb 10;13:724436. doi: 10.3389/fimmu.2022.724436. eCollection 2022. Front Immunol. 2022. PMID: 35222360 Free PMC article.
Deciphering imprints of impaired memory B-cell maturation in germinal centers of three patients with common variable immunodeficiency.
van Schouwenburg P, Unger S, Payne KJ, Kaiser FMP, Pico-Knijnenburg I, Pfeiffer J, Hausmann O, Friedmann D, Erbel M, Seidl M, van Zessen D, Stubbs AP, van der Burg M, Warnatz K. van Schouwenburg P, et al. Among authors: van zessen d, van der burg m. Front Immunol. 2022 Oct 6;13:959002. doi: 10.3389/fimmu.2022.959002. eCollection 2022. Front Immunol. 2022. PMID: 36275744 Free PMC article.
IL-7 receptor signaling drives human B-cell progenitor differentiation and expansion.
Kaiser FMP, Janowska I, Menafra R, de Gier M, Korzhenevich J, Pico-Knijnenburg I, Khatri I, Schulz A, Kuijpers TW, Lankester AC, Konstantinidis L, Erlacher M, Kloet S, van Schouwenburg PA, Rizzi M, van der Burg M. Kaiser FMP, et al. Among authors: van schouwenburg pa, van der burg m. Blood. 2023 Sep 28;142(13):1113-1130. doi: 10.1182/blood.2023019721. Blood. 2023. PMID: 37369082 Free PMC article.
Case report: Persistent hypogammaglobulinemia and mixed chimerism after HLA class-II disparate-hematopoietic stem cell transplant.
de Gier M, Pico-Knijnenburg I, van Ostaijen-Ten Dam MM, Berghuis D, Smiers FJ, van Beek AA, Jolink H, Jansen PM, Lankester AC, van der Burg M. de Gier M, et al. Among authors: van beek aa, van ostaijen ten dam mm, van der burg m. Front Immunol. 2024 Jul 9;15:1397567. doi: 10.3389/fimmu.2024.1397567. eCollection 2024. Front Immunol. 2024. PMID: 39044816 Free PMC article.
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Takada S, Okano T, Tanita K, Tsukada K, Watanabe M, Hijikata A, Naruto T, Yeh TW, Kasuga S, Tokimasa S, Taniguchi-Ikeda M, Ogata R, Ikeda A, Goto T, Osaka H, Takagi M, Imai K, Morio T, van der Burg M, Shimada M, Kanegane H. Takada S, et al. Among authors: van der burg m. J Allergy Clin Immunol Glob. 2025 Jun 11;4(3):100514. doi: 10.1016/j.jacig.2025.100514. eCollection 2025 Aug. J Allergy Clin Immunol Glob. 2025. PMID: 40687947 Free PMC article.
DNA-PKcs deficiency in human: long predicted, finally found.
van der Burg M, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc. Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):503-9. doi: 10.1097/ACI.0b013e3283327e41. Curr Opin Allergy Clin Immunol. 2009. PMID: 19823081 Review.
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM. de Greef JC, et al. Among authors: van tol mjd, van der maarel sm, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596365 Free PMC article.
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME. Nijman IJ, et al. Among authors: van lieshout s, van gijn me, van der zwaag b, van de corput l, van der burg m, van montfrans jm, van zon p. J Allergy Clin Immunol. 2014 Feb;133(2):529-34. doi: 10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139496
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
IJspeert H, Driessen GJ, Moorhouse MJ, Hartwig NG, Wolska-Kusnierz B, Kalwak K, Pituch-Noworolska A, Kondratenko I, van Montfrans JM, Mejstrikova E, Lankester AC, Langerak AW, van Gent DC, Stubbs AP, van Dongen JJ, van der Burg M. IJspeert H, et al. Among authors: van dongen jj, van gent dc, van der burg m, van montfrans jm. J Allergy Clin Immunol. 2014 Apr;133(4):1124-33. doi: 10.1016/j.jaci.2013.11.028. Epub 2014 Jan 11. J Allergy Clin Immunol. 2014. PMID: 24418478 Free PMC article.
Human IgE(+) B cells are derived from T cell-dependent and T cell-independent pathways.
Berkowska MA, Heeringa JJ, Hajdarbegovic E, van der Burg M, Thio HB, van Hagen PM, Boon L, Orfao A, van Dongen JJ, van Zelm MC. Berkowska MA, et al. Among authors: van hagen pm, van dongen jj, van der burg m, van zelm mc. J Allergy Clin Immunol. 2014 Sep;134(3):688-697.e6. doi: 10.1016/j.jaci.2014.03.036. Epub 2014 May 13. J Allergy Clin Immunol. 2014. PMID: 24835500
Defective B-cell memory in patients with Down syndrome.
Verstegen RHJ, Driessen GJ, Bartol SJW, van Noesel CJM, Boon L, van der Burg M, van Dongen JJM, de Vries E, van Zelm MC. Verstegen RHJ, et al. Among authors: van dongen jjm, van der burg m, van noesel cjm, van zelm mc. J Allergy Clin Immunol. 2014 Dec;134(6):1346-1353.e9. doi: 10.1016/j.jaci.2014.07.015. Epub 2014 Aug 23. J Allergy Clin Immunol. 2014. PMID: 25159464
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A. Mathieu AL, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2015 Jun;135(6):1578-88.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2. J Allergy Clin Immunol. 2015. PMID: 25842288 Free PMC article.
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, Choo S, Wang N, Tesselaar K, Fang M, Bienemann K, Boztug K, Daneva A, Mechinaud F, Wiesel T, Becker C, Dückers G, Siepermann K, van Zelm MC, Rezaei N, van der Burg M, Aghamohammadi A, Seidel MG, Niehues T, Hammarström L. Alkhairy OK, et al. Among authors: van montfrans j, van der burg m, van zelm mc. J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10. doi: 10.1016/j.jaci.2015.02.022. Epub 2015 Apr 3. J Allergy Clin Immunol. 2015. PMID: 25843314
Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.
Meijers RWJ, Dzierzanowska-Fangrat K, Zborowska M, Solarska I, Tielemans D, van Turnhout BAC, Driessen G, van der Burg M, van Dongen JJM, Chrzanowska KH, Langerak AW. Meijers RWJ, et al. Among authors: van turnhout bac, van dongen jjm, van der burg m. J Clin Immunol. 2017 Feb;37(2):133-142. doi: 10.1007/s10875-016-0363-5. Epub 2016 Dec 21. J Clin Immunol. 2017. PMID: 28000062 Free PMC article.
The TH1 phenotype of follicular helper T cells indicates an IFN-γ-associated immune dysregulation in patients with CD21low common variable immunodeficiency.
Unger S, Seidl M, van Schouwenburg P, Rakhmanov M, Bulashevska A, Frede N, Grimbacher B, Pfeiffer J, Schrenk K, Munoz L, Hanitsch L, Stumpf I, Kaiser F, Hausmann O, Kollert F, Goldacker S, van der Burg M, Keller B, Warnatz K. Unger S, et al. Among authors: van schouwenburg p, van der burg m. J Allergy Clin Immunol. 2018 Feb;141(2):730-740. doi: 10.1016/j.jaci.2017.04.041. Epub 2017 May 26. J Allergy Clin Immunol. 2018. PMID: 28554560 Clinical Trial.
Age-associated distribution of normal B-cell and plasma cell subsets in peripheral blood.
Blanco E, Pérez-Andrés M, Arriba-Méndez S, Contreras-Sanfeliciano T, Criado I, Pelak O, Serra-Caetano A, Romero A, Puig N, Remesal A, Torres Canizales J, López-Granados E, Kalina T, Sousa AE, van Zelm M, van der Burg M, van Dongen JJM, Orfao A; EuroFlow PID group. Blanco E, et al. Among authors: van zelm m, van dongen jjm, van der burg m. J Allergy Clin Immunol. 2018 Jun;141(6):2208-2219.e16. doi: 10.1016/j.jaci.2018.02.017. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29505809 Free article.
Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity.
Pfajfer L, Mair NK, Jiménez-Heredia R, Genel F, Gulez N, Ardeniz Ö, Hoeger B, Bal SK, Madritsch C, Kalinichenko A, Chandra Ardy R, Gerçeker B, Rey-Barroso J, Ijspeert H, Tangye SG, Simonitsch-Klupp I, Huppa JB, van der Burg M, Dupré L, Boztug K. Pfajfer L, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2018 Nov;142(5):1589-1604.e11. doi: 10.1016/j.jaci.2018.04.023. Epub 2018 May 8. J Allergy Clin Immunol. 2018. PMID: 29751004 Free article.
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN. Tirosh I, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2019 Feb;143(2):726-735. doi: 10.1016/j.jaci.2018.04.027. Epub 2018 Jun 18. J Allergy Clin Immunol. 2019. PMID: 29772310 Free PMC article.
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
Blom M, Bredius RGM, Jansen ME, Weijman G, Kemper EA, Vermont CL, Hollink IHIM, Dik WA, van Montfrans JM, van Gijn ME, Henriet SS, van Aerde KJ, Koole W, Lankester AC, Dekkers EHBM, Schielen PCJI, de Vries MC, Henneman L, van der Burg M; SONNET-Study Group. Blom M, et al. Among authors: van gijn me, van aerde kj, van der burg m, van montfrans jm. J Clin Immunol. 2021 Jan;41(1):99-108. doi: 10.1007/s10875-020-00886-4. Epub 2020 Oct 18. J Clin Immunol. 2021. PMID: 33070266 Free PMC article.
A novel digital PCR-based method to quantify (switched) B cells reveals the extent of allelic involvement in different recombination processes in the IGH locus.
Zoutman WH, Nell RJ, Versluis M, Pico I, Khanh Vu TH, Verdijk RM, van der Burg M, Langerak AW, van der Velden PA. Zoutman WH, et al. Among authors: van der velden pa, van der burg m. Mol Immunol. 2022 May;145:109-123. doi: 10.1016/j.molimm.2022.03.003. Epub 2022 Mar 23. Mol Immunol. 2022. PMID: 35339027 Free article.
Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.
Blom M, Duintjer AJ, Jamee M, de Gier M, Bloomfield M, Klocperk A, Kralickova P, Karaca NE, Boyarchuk O, Čižnár P, Jeseňák M, Sharapova S, Skopovets E, Gonzalez-Granado LI, Palmeri S, Volpi S, Nalda AM, Tello SR, Soler-Palacín P, Abolhassani H, Pulvirenti F, Cinicola B, Wintergerst U, de Bree GJ, van den Berg JM, Leavis HL, Vermont C, Dalm VASH, van Aerde K, Henriet S, Jolink H, Potjewijd J, Lankester A, Mukherjee CR, Berghuis D, Pac M, Shillitoe BMJ, Gennery AR, van der Burg M. Blom M, et al. Among authors: van der burg m. J Clin Immunol. 2025 Aug 25;45(1):125. doi: 10.1007/s10875-025-01904-z. J Clin Immunol. 2025. PMID: 40853601 Free PMC article.
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.
Brigida I, Sauer AV, Ferrua F, Giannelli S, Scaramuzza S, Pistoia V, Castiello MC, Barendregt BH, Cicalese MP, Casiraghi M, Brombin C, Puck J, Müller K, Notarangelo LD, Montin D, van Montfrans JM, Roncarolo MG, Traggiai E, van Dongen JJ, van der Burg M, Aiuti A. Brigida I, et al. Among authors: van dongen jj, van der burg m, van montfrans jm. J Allergy Clin Immunol. 2014 Mar;133(3):799-806.e10. doi: 10.1016/j.jaci.2013.12.1043. Epub 2014 Feb 5. J Allergy Clin Immunol. 2014. PMID: 24506932 Free PMC article.
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.
Castiello MC, Scaramuzza S, Pala F, Ferrua F, Uva P, Brigida I, Sereni L, van der Burg M, Ottaviano G, Albert MH, Grazia Roncarolo M, Naldini L, Aiuti A, Villa A, Bosticardo M. Castiello MC, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2015 Sep;136(3):692-702.e2. doi: 10.1016/j.jaci.2015.01.035. Epub 2015 Mar 16. J Allergy Clin Immunol. 2015. PMID: 25792466 Free PMC article. Clinical Trial.
T-cell receptor sequencing reveals decreased diversity 18 years after early thymectomy.
Gudmundsdottir J, Lundqvist C, Ijspeert H, van der Slik E, Óskarsdóttir S, Lindgren S, Lundberg V, Berglund M, Lingman-Framme J, Telemo E, van der Burg M, Ekwall O. Gudmundsdottir J, et al. Among authors: van der slik e, van der burg m. J Allergy Clin Immunol. 2017 Dec;140(6):1743-1746.e7. doi: 10.1016/j.jaci.2017.08.002. Epub 2017 Sep 1. J Allergy Clin Immunol. 2017. PMID: 28866385 No abstract available.
A kindred with mutant IKAROS and autoimmunity.
Van Nieuwenhove E, Garcia-Perez JE, Helsen C, Rodriguez PD, van Schouwenburg PA, Dooley J, Schlenner S, van der Burg M, Verhoeyen E, Gijsbers R, Frietze S, Schjerven H, Meyts I, Claessens F, Humblet-Baron S, Wouters C, Liston A. Van Nieuwenhove E, et al. Among authors: van schouwenburg pa, van der burg m. J Allergy Clin Immunol. 2018 Aug;142(2):699-702.e12. doi: 10.1016/j.jaci.2018.04.008. Epub 2018 Apr 27. J Allergy Clin Immunol. 2018. PMID: 29705243 Free PMC article.
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Tesch VK, IJspeert H, Raicht A, Rueda D, Dominguez-Pinilla N, Allende LM, Colas C, Rosenbaum T, Ilencikova D, Baris HN, Nathrath MHM, Suerink M, Januszkiewicz-Lewandowska D, Ragab I, Azizi AA, Wenzel SS, Zschocke J, Schwinger W, Kloor M, Blattmann C, Brugieres L, van der Burg M, Wimmer K, Seidel MG. Tesch VK, et al. Among authors: van der burg m. Front Immunol. 2018 Jul 2;9:1506. doi: 10.3389/fimmu.2018.01506. eCollection 2018. Front Immunol. 2018. PMID: 30013564 Free PMC article.
Precursor B-cell development in bone marrow of Good syndrome patients.
Del Pino Molina L, Wentink M, van Deuren M, van Hagen PM, Smith CIE, van der Burg M. Del Pino Molina L, et al. Among authors: van hagen pm, van der burg m, van deuren m. Clin Immunol. 2019 Mar;200:39-42. doi: 10.1016/j.clim.2018.11.009. Epub 2019 Jan 25. Clin Immunol. 2019. PMID: 30690192
Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools.
Del Pino-Molina L, López-Granados E, Lecrevisse Q, Torres Canizales J, Pérez-Andrés M, Blanco E, Wentink M, Bonroy C, Nechvatalova J, Milota T, Kienzler AK, Philippé J, Sousa AE, van der Burg M, Kalina T, van Dongen JJM, Orfao A. Del Pino-Molina L, et al. Among authors: van dongen jjm, van der burg m. Front Immunol. 2021 Feb 17;11:603972. doi: 10.3389/fimmu.2020.603972. eCollection 2020. Front Immunol. 2021. PMID: 33679693 Free PMC article.
Editorial: New Insights Into B Cell Subsets in Health and Disease.
Somers V, Dunn-Walters DK, van der Burg M, Fraussen J. Somers V, et al. Among authors: van der burg m. Front Immunol. 2022 Feb 1;13:854889. doi: 10.3389/fimmu.2022.854889. eCollection 2022. Front Immunol. 2022. PMID: 35178054 Free PMC article. No abstract available.
Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.
Atmar K, Ruivenkamp CAL, Hooimeijer L, Nibbeling EAR, Eckhardt CL, Huisman EJ, Lankester AC, Bartels M, Santen GWE, Smiers FJ, van der Burg M, Mohseny AB. Atmar K, et al. Among authors: van der burg m. Front Immunol. 2022 Apr 27;13:883826. doi: 10.3389/fimmu.2022.883826. eCollection 2022. Front Immunol. 2022. PMID: 35572556 Free PMC article.
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Karaatmaca B, Cagdas D, Esenboga S, Erman B, Tan C, Turul Ozgur T, Boztug K, van der Burg M, Sanal O, Tezcan I. Karaatmaca B, et al. Among authors: van der burg m. Clin Exp Immunol. 2024 Feb 7;215(2):160-176. doi: 10.1093/cei/uxad110. Clin Exp Immunol. 2024. PMID: 37724703 Free PMC article.
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants. Griffith LM, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139498 Free PMC article.
Key stages of bone marrow B-cell maturation are defective in patients with common variable immunodeficiency disorders.
Anzilotti C, Kienzler AK, Lopez-Granados E, Gooding S, Davies B, Pandit H, Lucas M, Price A, Littlewood T, van der Burg M, Patel SY, Chapel H. Anzilotti C, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2015 Aug;136(2):487-90.e2. doi: 10.1016/j.jaci.2014.12.1943. Epub 2015 Feb 26. J Allergy Clin Immunol. 2015. PMID: 25725990 No abstract available.
Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.
Meijers RWJ, Dzierzanowska-Fangrat K, Zborowska M, Solarska I, Tielemans D, van Turnhout BAC, Driessen G, van der Burg M, van Dongen JJM, Chrzanowska KH, Langerak AW. Meijers RWJ, et al. Among authors: van turnhout bac, van dongen jjm, van der burg m. J Clin Immunol. 2018 May;38(4):538. doi: 10.1007/s10875-018-0503-1. J Clin Immunol. 2018. PMID: 29728794 Free PMC article.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, Pashchenko OE, Pasic S, Freiberger T, Milota T, Formánková R, Szaflarska A, Siedlar M, Avčin T, Markelj G, Ciznar P, Kalwak K, Kołtan S, Jackowska T, Drabko K, Gagro A, Pac M, Naumova E, Kandilarova S, Babol-Pokora K, Varabyou DS, Barendregt BH, Raykina EV, Varlamova TV, Pavlova AV, Grombirikova H, Debeljak M, Mersiyanova IV, Bondarenko AV, Chernyshova LI, Kostyuchenko LV, Guseva MN, Rascon J, Muleviciene A, Preiksaitiene E, Geier CB, Leiss-Piller A, Yamazaki Y, Kawai T, Walter JE, Kondratenko IV, Šedivá A, van der Burg M, Kuzmenko NB, Notarangelo LD, Bernatowska E, Aleinikova OV. Sharapova SO, et al. Among authors: van der burg m. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
Impaired CpG Demethylation in Common Variable Immunodeficiency Associates With B Cell Phenotype and Proliferation Rate.
Del Pino-Molina L, Rodríguez-Ubreva J, Torres Canizales J, Coronel-Díaz M, Kulis M, Martín-Subero JI, van der Burg M, Ballestar E, López-Granados E. Del Pino-Molina L, et al. Among authors: van der burg m. Front Immunol. 2019 Apr 24;10:878. doi: 10.3389/fimmu.2019.00878. eCollection 2019. Front Immunol. 2019. PMID: 31105700 Free PMC article.
EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System.
van Dongen JJM, van der Burg M, Kalina T, Perez-Andres M, Mejstrikova E, Vlkova M, Lopez-Granados E, Wentink M, Kienzler AK, Philippé J, Sousa AE, van Zelm MC, Blanco E, Orfao A. van Dongen JJM, et al. Among authors: van der burg m, van zelm mc. Front Immunol. 2019 Jun 13;10:1271. doi: 10.3389/fimmu.2019.01271. eCollection 2019. Front Immunol. 2019. PMID: 31263462 Free PMC article.
The Euroflow PID Orientation Tube in the diagnostic workup of primary immunodeficiency: Daily practice performance in a tertiary university hospital.
Neirinck J, Emmaneel A, Buysse M, Philippé J, Van Gassen S, Saeys Y, Bossuyt X, De Buyser S, van der Burg M, Pérez-Andrés M, Orfao A, van Dongen JJM, Lambrecht BN, Kerre T, Hofmans M, Haerynck F, Bonroy C. Neirinck J, et al. Among authors: van dongen jjm, van der burg m, van gassen s. Front Immunol. 2022 Sep 13;13:937738. doi: 10.3389/fimmu.2022.937738. eCollection 2022. Front Immunol. 2022. PMID: 36177024 Free PMC article.
Clinical Spectrum of SCID: The Key is in the Thymus?
van der Burg M, van Zelm MC. van der Burg M, et al. Among authors: van zelm mc. Front Immunol. 2014 Mar 19;5:111. doi: 10.3389/fimmu.2014.00111. eCollection 2014. Front Immunol. 2014. PMID: 24678313 Free PMC article. No abstract available.
Editorial: Application of Cytometry in Primary Immunodeficiencies.
Kalina T, Abraham RS, Rizzi M, van der Burg M. Kalina T, et al. Among authors: van der burg m. Front Immunol. 2020 Mar 19;11:463. doi: 10.3389/fimmu.2020.00463. eCollection 2020. Front Immunol. 2020. PMID: 32265921 Free PMC article. No abstract available.
Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.
Tóth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, Márton G, Nagy K, Dérfalvi B, Szolnoky M, Kalmár A, Belevtsev M, Guseva M, Rugina A, Kriván G, Timár L, Nyul Z, Mosdósi B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Maródi L. Tóth B, et al. Among authors: van dongen j, van der burg m. Mol Immunol. 2009 Jun;46(10):2140-6. doi: 10.1016/j.molimm.2009.03.012. Epub 2009 May 5. Mol Immunol. 2009. PMID: 19419768
New frontiers of primary antibody deficiencies.
van der Burg M, van Zelm MC, Driessen GJ, van Dongen JJ. van der Burg M, et al. Among authors: van dongen jj, van zelm mc. Cell Mol Life Sci. 2012 Jan;69(1):59-73. doi: 10.1007/s00018-011-0836-x. Epub 2011 Nov 1. Cell Mol Life Sci. 2012. PMID: 22042269 Free PMC article. Review.
Unraveling the repertoire in Wiskott-Aldrich syndrome.
Petersen SH, Sendel A, van der Burg M, Westerberg LS. Petersen SH, et al. Among authors: van der burg m. Front Immunol. 2014 Oct 27;5:539. doi: 10.3389/fimmu.2014.00539. eCollection 2014. Front Immunol. 2014. PMID: 25386182 Free PMC article. Review. No abstract available.
B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency.
Driessen GJ, van Zelm MC, van Hagen PM, Hartwig NG, Trip M, Warris A, de Vries E, Barendregt BH, Pico I, Hop W, van Dongen JJ, van der Burg M. Driessen GJ, et al. Among authors: van hagen pm, van dongen jj, van der burg m, van zelm mc. Blood. 2011 Dec 22;118(26):6814-23. doi: 10.1182/blood-2011-06-361881. Epub 2011 Oct 31. Blood. 2011. PMID: 22042693 Free article.
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Meshaal SS, El Hawary RE, Abd Elaziz DS, Eldash A, Alkady R, Lotfy S, Mauracher AA, Opitz L, Pachlopnik Schmid J, van der Burg M, Chou J, Galal NM, Boutros JA, Geha R, Elmarsafy AM. Meshaal SS, et al. Among authors: van der burg m. Clin Exp Immunol. 2019 Feb;195(2):202-212. doi: 10.1111/cei.13222. Epub 2018 Nov 4. Clin Exp Immunol. 2019. PMID: 30307608 Free PMC article.
An antibody-deficiency syndrome due to mutations in the CD19 gene.
van Zelm MC, Reisli I, van der Burg M, Castaño D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patiño PJ, van Dongen JJ, Franco JL. van Zelm MC, et al. Among authors: van noesel cj, van dongen jj, van tol mj, van der burg m. N Engl J Med. 2006 May 4;354(18):1901-12. doi: 10.1056/NEJMoa051568. N Engl J Med. 2006. PMID: 16672701 Free article.
A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity.
Wiegant WW, Meyers M, Verkaik NS, van der Burg M, Darroudi F, Romeijn R, Bernatowska E, Wolska-Kusnierz B, Mikoluc B, Jaspers NG, Vreeken C, Ijspeert H, Esveldt-van Lange RE, Friedl AA, de Villartay JP, Mullenders LH, van Dongen JJ, van Gent DC, Pastink A, Zdzienicka MZ. Wiegant WW, et al. Among authors: van dongen jj, van gent dc, van der burg m. DNA Repair (Amst). 2010 Apr 4;9(4):365-73. doi: 10.1016/j.dnarep.2009.12.004. Epub 2010 Jan 15. DNA Repair (Amst). 2010. PMID: 20079696
An essential role for the Zn2+ transporter ZIP7 in B cell development.
Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S. Anzilotti C, et al. Among authors: van der burg m, van den berg b. Nat Immunol. 2019 Mar;20(3):350-361. doi: 10.1038/s41590-018-0295-8. Epub 2019 Feb 4. Nat Immunol. 2019. PMID: 30718914 Free PMC article.
Human memory B cells originate from three distinct germinal center-dependent and -independent maturation pathways.
Berkowska MA, Driessen GJ, Bikos V, Grosserichter-Wagener C, Stamatopoulos K, Cerutti A, He B, Biermann K, Lange JF, van der Burg M, van Dongen JJ, van Zelm MC. Berkowska MA, et al. Among authors: van dongen jj, van der burg m, van zelm mc. Blood. 2011 Aug 25;118(8):2150-8. doi: 10.1182/blood-2011-04-345579. Epub 2011 Jun 20. Blood. 2011. PMID: 21690558 Free PMC article.
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N, van Wijck RTA, Broer L, Xue L, van Meurs JBJ, Barendregt BH, van der Burg M, Dik WA, Chatchatee P, Langerak AW, Swagemakers SMA, Goos JAC, Mathijssen IMJ, Dalm VASH, Suphapeetiporn K, Heezen KC, Drabwell J, Uitterlinden AG, van der Spek PJ, van Hagen PM; South East Asia Primary Immunodeficiencies (SEAPID) Consortium. Suratannon N, et al. Among authors: van hagen pm, van der spek pj, van meurs jbj, van wijck rta, van der burg m. Front Immunol. 2020 Apr 15;11:614. doi: 10.3389/fimmu.2020.00614. eCollection 2020. Front Immunol. 2020. PMID: 32373116 Free PMC article.
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, Brugmans L, Raams A, Jaspers NG, Zdzienicka MZ, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc, van veelen lr. J Clin Invest. 2006 Jan;116(1):137-45. doi: 10.1172/JCI26121. Epub 2005 Dec 15. J Clin Invest. 2006. PMID: 16357942 Free PMC article.
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V, Freiberger T, Shcherbina A, Pac M, Chernyshova L, Avcin T, Kondratenko I, Kostyuchenko L, Prokofjeva T, Pasic S, Bernatowska E, Kutukculer N, Rascon J, Iagaru N, Mazza C, Tóth B, Erdos M, van der Burg M, Maródi L; J Project Study Group. Gulácsy V, et al. Among authors: van der burg m. Mol Immunol. 2011 Feb;48(5):788-92. doi: 10.1016/j.molimm.2010.11.013. Epub 2010 Dec 24. Mol Immunol. 2011. PMID: 21185603
The expansion of human T-bethighCD21low B cells is T cell dependent.
Keller B, Strohmeier V, Harder I, Unger S, Payne KJ, Andrieux G, Boerries M, Felixberger PT, Landry JJM, Nieters A, Rensing-Ehl A, Salzer U, Frede N, Usadel S, Elling R, Speckmann C, Hainmann I, Ralph E, Gilmour K, Wentink MWJ, van der Burg M, Kuehn HS, Rosenzweig SD, Kölsch U, von Bernuth H, Kaiser-Labusch P, Gothe F, Hambleton S, Vlagea AD, Garcia Garcia A, Alsina L, Markelj G, Avcin T, Vasconcelos J, Guedes M, Ding JY, Ku CL, Shadur B, Avery DT, Venhoff N, Thiel J, Becker H, Erazo-Borrás L, Trujillo-Vargas CM, Franco JL, Fieschi C, Okada S, Gray PE, Uzel G, Casanova JL, Fliegauf M, Grimbacher B, Eibel H, Ehl S, Voll RE, Rizzi M, Stepensky P, Benes V, Ma CS, Bossen C, Tangye SG, Warnatz K. Keller B, et al. Among authors: van der burg m. Sci Immunol. 2021 Oct 15;6(64):eabh0891. doi: 10.1126/sciimmunol.abh0891. Epub 2021 Oct 8. Sci Immunol. 2021. PMID: 34623902
Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.
van der Burg M, Pac M, Berkowska MA, Goryluk-Kozakiewicz B, Wakulinska A, Dembowska-Baginska B, Gregorek H, Barendregt BH, Krajewska-Walasek M, Bernatowska E, van Dongen JJ, Chrzanowska KH, Langerak AW. van der Burg M, et al. Among authors: van dongen jj. Blood. 2010 Jun 10;115(23):4770-7. doi: 10.1182/blood-2009-10-250514. Epub 2010 Apr 8. Blood. 2010. PMID: 20378756 Free article.
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.
Suratannon N, Yeetong P, Srichomthong C, Amarinthnukrowh P, Chatchatee P, Sosothikul D, van Hagen PM, van der Burg M, Wentink M, Driessen GJ, Suphapeetiporn K, Shotelersuk V. Suratannon N, et al. Among authors: van hagen pm, van der burg m. Pediatr Allergy Immunol. 2016 Mar;27(2):214-7. doi: 10.1111/pai.12485. Epub 2015 Oct 22. Pediatr Allergy Immunol. 2016. PMID: 26359933 No abstract available.
Successful Preclinical Development of Gene Therapy for Recombinase-Activating Gene-1-Deficient SCID.
Garcia-Perez L, van Eggermond M, van Roon L, Vloemans SA, Cordes M, Schambach A, Rothe M, Berghuis D, Lagresle-Peyrou C, Cavazzana M, Zhang F, Thrasher AJ, Salvatori D, Meij P, Villa A, Van Dongen JJM, Zwaginga JJ, van der Burg M, Gaspar HB, Lankester A, Staal FJT, Pike-Overzet K. Garcia-Perez L, et al. Among authors: van eggermond m, van dongen jjm, van der burg m, van roon l. Mol Ther Methods Clin Dev. 2020 Mar 31;17:666-682. doi: 10.1016/j.omtm.2020.03.016. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32322605 Free PMC article.
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.
Chen R, Lukianova E, Schim van der Loeff I, Spegarova JS, Willet JDP, James KD, Ryder EJ, Griffin H, IJspeert H, Gajbhiye A, Lamoliatte F, Marin-Rubio JL, Woodbine L, Lemos H, Swan DJ, Pintar V, Sayes K, Ruiz-Morales ER, Eastham S, Dixon D, Prete M, Prigmore E, Jeggo P, Boyes J, Mellor A, Huang L, van der Burg M, Engelhardt KR, Stray-Pedersen A, Erichsen HC, Gennery AR, Trost M, Adams DJ, Anderson G, Lorenc A, Trynka G, Hambleton S. Chen R, et al. Among authors: van der burg m. Sci Immunol. 2024 May 24;9(95):eade5705. doi: 10.1126/sciimmunol.ade5705. Epub 2024 May 24. Sci Immunol. 2024. PMID: 38787962
Educational paper: primary antibody deficiencies.
Driessen G, van der Burg M. Driessen G, et al. Among authors: van der burg m. Eur J Pediatr. 2011 Jun;170(6):693-702. doi: 10.1007/s00431-011-1474-x. Epub 2011 May 5. Eur J Pediatr. 2011. PMID: 21544519 Free PMC article. Review.
IVIg-induced plasmablasts in patients with Guillain-Barré syndrome.
Brem MD, Jacobs BC, van Rijs W, Fokkink WJR, Tio-Gillen AP, Walgaard C, van Doorn PA, IJspeert H, van der Burg M, Huizinga R. Brem MD, et al. Among authors: van rijs w, van der burg m, van doorn pa. Ann Clin Transl Neurol. 2018 Nov 27;6(1):129-143. doi: 10.1002/acn3.687. eCollection 2019 Jan. Ann Clin Transl Neurol. 2018. PMID: 30656191 Free PMC article.
Anti-TNF treatment blocks the induction of T cell-dependent humoral responses.
Salinas GF, De Rycke L, Barendregt B, Paramarta JE, Hreggvidsdottir H, Cantaert T, van der Burg M, Tak PP, Baeten D. Salinas GF, et al. Among authors: van der burg m. Ann Rheum Dis. 2013 Jun;72(6):1037-43. doi: 10.1136/annrheumdis-2011-201270. Epub 2012 Sep 11. Ann Rheum Dis. 2013. PMID: 22968102 Clinical Trial.
Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum.
Driessen GJ, Dalm VA, van Hagen PM, Grashoff HA, Hartwig NG, van Rossum AM, Warris A, de Vries E, Barendregt BH, Pico I, Posthumus S, van Zelm MC, van Dongen JJ, van der Burg M. Driessen GJ, et al. Among authors: van hagen pm, van dongen jj, van rossum am, van der burg m, van zelm mc. Haematologica. 2013 Oct;98(10):1617-23. doi: 10.3324/haematol.2013.085076. Epub 2013 Jun 10. Haematologica. 2013. PMID: 23753020 Free PMC article.
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.
Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M. Janda A, et al. Among authors: van der burg m. Blood. 2016 May 5;127(18):2193-202. doi: 10.1182/blood-2015-04-642488. Epub 2016 Feb 23. Blood. 2016. PMID: 26907631 Free article.
The EuroFlow PID Orientation Tube for Flow Cytometric Diagnostic Screening of Primary Immunodeficiencies of the Lymphoid System.
van der Burg M, Kalina T, Perez-Andres M, Vlkova M, Lopez-Granados E, Blanco E, Bonroy C, Sousa AE, Kienzler AK, Wentink M, Mejstríková E, Šinkorova V, Stuchly J, van Zelm MC, Orfao A, van Dongen JJM. van der Burg M, et al. Among authors: van dongen jjm, van zelm mc. Front Immunol. 2019 Mar 4;10:246. doi: 10.3389/fimmu.2019.00246. eCollection 2019. Front Immunol. 2019. PMID: 30886612 Free PMC article.
Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
Kaiser FMP, Gruenbacher S, Oyaga MR, Nio E, Jaritz M, Sun Q, van der Zwaag W, Kreidl E, Zopf LM, Dalm VASH, Pel J, Gaiser C, van der Vliet R, Wahl L, Rietman A, Hill L, Leca I, Driessen G, Laffeber C, Brooks A, Katsikis PD, Lebbink JHG, Tachibana K, van der Burg M, De Zeeuw CI, Badura A, Busslinger M. Kaiser FMP, et al. Among authors: van der vliet r, van der burg m, van der zwaag w. J Exp Med. 2022 Sep 5;219(9):e20220498. doi: 10.1084/jem.20220498. Epub 2022 Aug 10. J Exp Med. 2022. PMID: 35947077 Free PMC article.
Tviblindi algorithm identifies branching developmental trajectories of human B-cell development and describes abnormalities in RAG-1 and WAS patients.
Bakardjieva M, Pelák O, Wentink M, Glier H, Novák D, Stančíková J, Kužílková D, Mejstříková E, Janowska I, Rizzi M, van der Burg M, Stuchlý J, Kalina T. Bakardjieva M, et al. Among authors: van der burg m. Eur J Immunol. 2024 Dec;54(12):e2451004. doi: 10.1002/eji.202451004. Epub 2024 Sep 5. Eur J Immunol. 2024. PMID: 39235410 Free PMC article.
Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.
van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C, Tezcan I, Bernatowska E, Hartwig NG, Sanders EA, Litzman J, Kondratenko I, van Dongen JJ, van der Burg M. van Zelm MC, et al. Among authors: van dongen jj, van der burg m. Am J Hum Genet. 2008 Feb;82(2):320-32. doi: 10.1016/j.ajhg.2007.10.011. Am J Hum Genet. 2008. PMID: 18252213 Free PMC article.
Mutations in Bruton's tyrosine kinase impair IgA responses.
Mitsuiki N, Yang X, Bartol SJ, Grosserichter-Wagener C, Kosaka Y, Takada H, Imai K, Kanegane H, Mizutani S, van der Burg M, van Zelm MC, Ohara O, Morio T. Mitsuiki N, et al. Among authors: van der burg m, van zelm mc. Int J Hematol. 2015 Mar;101(3):305-13. doi: 10.1007/s12185-015-1732-1. Epub 2015 Jan 15. Int J Hematol. 2015. PMID: 25589397
Optimization and testing of dried antibody tube: The EuroFlow LST and PIDOT tubes as examples.
van der Velden VHJ, Flores-Montero J, Perez-Andres M, Martin-Ayuso M, Crespo O, Blanco E, Kalina T, Philippé J, Bonroy C, de Bie M, Te Marvelde J, Teodosio C, Corral Mateos A, Kanderová V, van der Burg M, Van Hoof D, van Dongen JJM, Orfao A. van der Velden VHJ, et al. Among authors: van dongen jjm, van hoof d, van der burg m. J Immunol Methods. 2019 Dec;475:112287. doi: 10.1016/j.jim.2017.03.011. Epub 2017 Mar 22. J Immunol Methods. 2019. PMID: 28341440 Free article.
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, Bottarelli V, van der Burg M, Dekkers E, Battelino T, Prevot J, Schielen PCJI, Bonham JR. Sikonja J, et al. Among authors: van der burg m. Int J Neonatal Screen. 2022 May 6;8(2):31. doi: 10.3390/ijns8020031. Int J Neonatal Screen. 2022. PMID: 35645285 Free PMC article. Review.
Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans.
Castiello MC, Bosticardo M, Pala F, Catucci M, Chamberlain N, van Zelm MC, Driessen GJ, Pac M, Bernatowska E, Scaramuzza S, Aiuti A, Sauer AV, Traggiai E, Meffre E, Villa A, van der Burg M. Castiello MC, et al. Among authors: van der burg m, van zelm mc. J Autoimmun. 2014 May;50(100):42-50. doi: 10.1016/j.jaut.2013.10.006. Epub 2013 Dec 25. J Autoimmun. 2014. PMID: 24369837 Free PMC article.
Adaptive antibody diversification through N-linked glycosylation of the immunoglobulin variable region.
van de Bovenkamp FS, Derksen NIL, Ooijevaar-de Heer P, van Schie KA, Kruithof S, Berkowska MA, van der Schoot CE, IJspeert H, van der Burg M, Gils A, Hafkenscheid L, Toes REM, Rombouts Y, Plomp R, Wuhrer M, van Ham SM, Vidarsson G, Rispens T. van de Bovenkamp FS, et al. Among authors: van ham sm, van der schoot ce, van schie ka, van der burg m. Proc Natl Acad Sci U S A. 2018 Feb 20;115(8):1901-1906. doi: 10.1073/pnas.1711720115. Epub 2018 Feb 5. Proc Natl Acad Sci U S A. 2018. PMID: 29432186 Free PMC article.
Decreased IL7Rα and TdT expression underlie the skewed immunoglobulin repertoire of human B-cell precursors from fetal origin.
Rother MB, Jensen K, van der Burg M, van de Bovenkamp FS, Kroek R, van IJcken WF, van der Velden VH, Cupedo T, Olstad OK, van Dongen JJ, van Zelm MC. Rother MB, et al. Among authors: van der velden vh, van dongen jj, van ijcken wf, van der burg m, van zelm mc, van de bovenkamp fs. Sci Rep. 2016 Sep 23;6:33924. doi: 10.1038/srep33924. Sci Rep. 2016. PMID: 27658954 Free PMC article.
Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency.
Warnatz K, Bossaller L, Salzer U, Skrabl-Baumgartner A, Schwinger W, van der Burg M, van Dongen JJ, Orlowska-Volk M, Knoth R, Durandy A, Draeger R, Schlesier M, Peter HH, Grimbacher B. Warnatz K, et al. Among authors: van dongen jj, van der burg m. Blood. 2006 Apr 15;107(8):3045-52. doi: 10.1182/blood-2005-07-2955. Epub 2005 Dec 29. Blood. 2006. PMID: 16384931 Free article.
Selection and validation of antibody clones against IgG and IgA subclasses in switched memory B-cells and plasma cells.
Blanco E, Perez-Andres M, Sanoja-Flores L, Wentink M, Pelak O, Martín-Ayuso M, Grigore G, Torres-Canizales J, López-Granados E, Kalina T, van der Burg M, Arriba-Méndez S, Santa Cruz S, Puig N, van Dongen JJM, Orfao A. Blanco E, et al. Among authors: van dongen jjm, van der burg m. J Immunol Methods. 2019 Dec;475:112372. doi: 10.1016/j.jim.2017.09.008. Epub 2017 Sep 28. J Immunol Methods. 2019. PMID: 28965920
Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program.
Blom M, Bredius RGM, Weijman G, Dekkers EHBM, Kemper EA, van den Akker-van Marle ME, van der Ploeg CPB, van der Burg M, Schielen PCJI. Blom M, et al. Among authors: van den akker van marle me, van der ploeg cpb, van der burg m. Int J Neonatal Screen. 2018 Dec 12;4(4):40. doi: 10.3390/ijns4040040. eCollection 2018 Dec. Int J Neonatal Screen. 2018. PMID: 33072960 Free PMC article. Review.
T, B, and NK cells versus the primary immunodeficiency orientation tube for diagnostic screening of IEIs.
Perez-Andres M, van der Burg M, Kalina T, Bonroy C, Silva SL, Lopez-Granados E, Arriba-Méndez S, Serrano C, Torres RC, Paiva A, Gonzalez-Granado LI, Sousa AE, Hofmans M, van Dongen JJM, Orfao A; EuroFlow Consortium. Perez-Andres M, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2025 Dec;156(6):1772-1775. doi: 10.1016/j.jaci.2025.09.021. Epub 2025 Oct 16. J Allergy Clin Immunol. 2025. PMID: 41105067 No abstract available.
Correction to: Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.
Blom M, Duintjer AJ, Jamee M, de Gier M, Bloomfield M, Klocperk A, Kralickova P, Karaca NE, Boyarchuk O, Čižnár P, Jeseňák M, Sharapova S, Skopovets E, Gonzalez-Granado LI, Palmeri S, Volpi S, Nalda AM, Tello SR, Soler-Palacín P, Abolhassani H, Pulvirenti F, Cinicola B, Wintergerst U, de Bree GJ, van den Berg JM, Leavis HL, Vermont C, Dalm VASH, van Aerde K, Henriet S, Jolink H, Potjewijd J, Lankester A, Mukherjee CR, Berghuis D, Pac M, Shillitoe BMJ, Gennery AR, van der Burg M. Blom M, et al. Among authors: van der burg m. J Clin Immunol. 2025 Oct 9;45(1):142. doi: 10.1007/s10875-025-01944-5. J Clin Immunol. 2025. PMID: 41065887 Free PMC article. No abstract available.
Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.
Wan H, Ren W, Yang M, Nie M, Wasik AM, Du L, de Campos-Mata L, Sun R, Bai Z, Enninful A, Wang Y, Berglund M, Amini RM, Li X, Yang C, Ye X, Yang ZZ, Ansell SM, Liu D, van der Burg M, Fan R, Wu K, Sander B, Pan-Hammarström Q. Wan H, et al. Among authors: van der burg m. Cell Rep Med. 2025 Sep 16;6(9):102318. doi: 10.1016/j.xcrm.2025.102318. Epub 2025 Aug 27. Cell Rep Med. 2025. PMID: 40876452 Free PMC article.
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684 Free article.
Elevated Fab glycosylation of autoantibodies maintained during B cell depletion therapy.
Valk AM, Koers J, Derksen NIL, Hogenboom L, van Kempen Z, Killestein J, Rutgers A, Heeringa P, Horváth B, Kuijpers TW, van Ham SM, Brinke AT, van der Woude D, Toes REM, Bos NA, Rispens T; T2B consortium. Valk AM, et al. Sci Rep. 2025 Apr 28;15(1):14770. doi: 10.1038/s41598-025-99226-y. Sci Rep. 2025. PMID: 40295683 Free PMC article.
Newborn screening for SCID and severe T lymphocytopenia in Europe.
Blom M, Soomann M, Soler-Palacín P, Šedivá A, Stray-Pedersen A, Zetterström R, Speckmann C, Gennery AR, van der Burg M. Blom M, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2025 Feb;155(2):377-386. doi: 10.1016/j.jaci.2024.10.018. Epub 2024 Nov 6. J Allergy Clin Immunol. 2025. PMID: 39510364 Free article. Review.
Orientation Regulation of Class-switch Recombination in Human B Cells.
Du L, Oksenych V, Wan H, Ye X, Dong J, Ye AY, Abolhassani H, Vlachiotis S, Zhang X, de la Rosa K, Hammarström L, van der Burg M, Alt FW, Pan-Hammarström Q. Du L, et al. Among authors: van der burg m. J Immunol. 2024 Oct 15;213(8):1093-1104. doi: 10.4049/jimmunol.2300842. J Immunol. 2024. PMID: 39248600 Free PMC article.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: van de veerdonk fl, van der burg m. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300 Free PMC article.
Practical Guide to Measuring Wetland Carbon Pools and Fluxes.
Bansal S, Creed IF, Tangen BA, Bridgham SD, Desai AR, Krauss KW, Neubauer SC, Noe GB, Rosenberry DO, Trettin C, Wickland KP, Allen ST, Arias-Ortiz A, Armitage AR, Baldocchi D, Banerjee K, Bastviken D, Berg P, Bogard MJ, Chow AT, Conner WH, Craft C, Creamer C, DelSontro T, Duberstein JA, Eagle M, Fennessy MS, Finkelstein SA, Göckede M, Grunwald S, Halabisky M, Herbert E, Jahangir MMR, Johnson OF, Jones MC, Kelleway JJ, Knox S, Kroeger KD, Kuehn KA, Lobb D, Loder AL, Ma S, Maher DT, McNicol G, Meier J, Middleton BA, Mills C, Mistry P, Mitra A, Mobilian C, Nahlik AM, Newman S, O'Connell JL, Oikawa P, van der Burg MP, Schutte CA, Song C, Stagg CL, Turner J, Vargas R, Waldrop MP, Wallin MB, Wang ZA, Ward EJ, Willard DA, Yarwood S, Zhu X. Bansal S, et al. Among authors: van der burg mp. Wetlands (Wilmington). 2023;43(8):105. doi: 10.1007/s13157-023-01722-2. Epub 2023 Nov 28. Wetlands (Wilmington). 2023. PMID: 38037553 Free PMC article. Review.
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.
Del Pino-Molina L, Bravo Gallego LY, Soto Serrano Y, Reche Yebra K, Marty Lobo J, González Martínez B, Bravo García-Morato M, Rodríguez Pena R, van der Burg M, López Granados E. Del Pino-Molina L, et al. Among authors: van der burg m. Front Immunol. 2023 Apr 24;14:1095123. doi: 10.3389/fimmu.2023.1095123. eCollection 2023. Front Immunol. 2023. PMID: 37197664 Free PMC article.
Correction: Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
Kaiser FMP, Gruenbacher S, Oyaga MR, Nio E, Jaritz M, Sun Q, van der Zwaag W, Kreidl E, Zopf LM, Dalm VASH, Pel J, Gaiser C, van der Vliet R, Wahl L, Rietman A, Hill L, Leca I, Driessen G, Laffeber C, Brooks A, Katsikis PD, Lebbink JHG, Tachibana K, van der Burg M, De Zeeuw CI, Badura A, Busslinger M. Kaiser FMP, et al. Among authors: van der vliet r, van der burg m, van der zwaag w. J Exp Med. 2023 Jan 2;220(1):e2022049812012022c. doi: 10.1084/jem.2022049812012022c. Epub 2022 Dec 7. J Exp Med. 2023. PMID: 36480208 Free PMC article. No abstract available.
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Dabrowska-Leonik N, Pastorczak AK, Bąbol-Pokora K, Bernat-Sitarz K, Piątosa B, Heropolitańska-Pliszka E, Kacprzak MM, Kalwak K, Gul K, van der Burg M, Ussowicz M, Pac M. Dabrowska-Leonik N, et al. Among authors: van der burg m. Front Immunol. 2022 Oct 19;13:1033338. doi: 10.3389/fimmu.2022.1033338. eCollection 2022. Front Immunol. 2022. PMID: 36341401 Free PMC article.
[Non-bacterial thrombotic endocarditis].
van der Burg MC, Balder JW, van den Brand JJG, van Gulik S, Fiolet ATL. van der Burg MC, et al. Ned Tijdschr Geneeskd. 2021 Dec 21;165:D5816. Ned Tijdschr Geneeskd. 2021. PMID: 35129890 Dutch.
Considerations for radiotherapy in Bloom Syndrome: A case series.
Schoenaker MHD, Takada S, van Deuren M, Dommering CJ, Henriët SSV, Pico I, Vogel WV, Weemaes CMR, Willemsen MAAP, van der Burg M, Kaanders JHAM. Schoenaker MHD, et al. Among authors: van der burg m, van deuren m. Eur J Med Genet. 2021 Oct;64(10):104293. doi: 10.1016/j.ejmg.2021.104293. Epub 2021 Aug 2. Eur J Med Genet. 2021. PMID: 34352413 Free article.
Automated identification of leukocyte subsets improves standardization of database-guided expert-supervised diagnostic orientation in acute leukemia: a EuroFlow study.
Lhermitte L, Barreau S, Morf D, Fernandez P, Grigore G, Barrena S, de Bie M, Flores-Montero J, Brüggemann M, Mejstrikova E, Nierkens S, Burgos L, Caetano J, Gaipa G, Buracchi C, da Costa ES, Sedek L, Szczepański T, Aanei CM, van der Sluijs-Gelling A, Delgado AH, Fluxa R, Lecrevisse Q, Pedreira CE, van Dongen JJM, Orfao A, van der Velden VHJ; EuroFlow Consortium. Lhermitte L, et al. Mod Pathol. 2021 Jan;34(1):59-69. doi: 10.1038/s41379-020-00677-7. Epub 2020 Sep 30. Mod Pathol. 2021. PMID: 32999413 Free PMC article.
461 results