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Page 1
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, Wilkie AOM, Tezcan I, Uhlig HH, Boztug K. Shahin T, et al. Among authors: bal sk. Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11. Haematologica. 2019. PMID: 30309848 Free PMC 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: bal sk. 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.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
Cagdas D, Mayr D, Baris S, Worley L, Langley DB, Metin A, Aytekin ES, Atan R, Kasap N, Bal SK, Dmytrus J, Heredia RJ, Karasu G, Torun SH, Toyran M, Karakoc-Aydiner E, Christ D, Kuskonmaz B, Uçkan-Çetinkaya D, Uner A, Oberndorfer F, Schiefer AI, Uzel G, Deenick EK, Keller B, Warnatz K, Neven B, Durandy A, Sanal O, Ma CS, Özen A, Stepensky P, Tezcan I, Boztug K, Tangye SG. Cagdas D, et al. Among authors: bal sk. J Clin Immunol. 2021 Aug;41(6):1272-1290. doi: 10.1007/s10875-021-01031-5. Epub 2021 Apr 30. J Clin Immunol. 2021. PMID: 33929673 Free PMC article.
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: bal sk. 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.
Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes.
Bayram O, Haskologlu S, Bayrakoğlu D, Bal SK, Islamoglu C, Cipe FE, Kendirli T, Kursun N, Guner SN, Yildiran A, Bozdogan G, Yuksek M, Reisli I, Dalva K, Aytekin C, Boztug K, Dogu F, Ikinciogullari A. Bayram O, et al. Among authors: bal sk. J Clin Immunol. 2021 Oct;41(7):1563-1573. doi: 10.1007/s10875-021-01062-y. Epub 2021 Jun 10. J Clin Immunol. 2021. PMID: 34114123
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
Shahin T, Kuehn HS, Shoeb MR, Gawriyski L, Giuliani S, Repiscak P, Hoeger B, Yüce Petronczki Ö, Bal SK, Zoghi S, Dmytrus J, Seruggia D, Castanon I, Rezaei N, Varjosalo M, Halbritter F, Rosenzweig SD, Boztug K. Shahin T, et al. Among authors: bal sk. Sci Immunol. 2021 Nov 26;6(65):eabe3981. doi: 10.1126/sciimmunol.abe3981. Epub 2021 Nov 26. Sci Immunol. 2021. PMID: 34826259 Free PMC article.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki ÖY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K. Shahin T, et al. Among authors: bal sk. Blood Adv. 2022 Apr 12;6(7):2444-2451. doi: 10.1182/bloodadvances.2021006367. Blood Adv. 2022. PMID: 34920454 Free PMC article.
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.
Karakus IS, Catak MC, Frohne A, Bayram Catak F, Yorgun Altunbas M, Babayeva R, Bal SK, Eltan SB, Yalcin Gungoren E, Esen F, Zemheri IE, Karakoc-Aydiner E, Ozen A, Caki-Kilic S, Kraakman MJ, Boztug K, Baris S. Karakus IS, et al. Among authors: bal sk. J Clin Immunol. 2024 Apr 5;44(4):94. doi: 10.1007/s10875-024-01682-0. J Clin Immunol. 2024. PMID: 38578569 Free PMC article.
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarström L, Tangye SG, Su HC, Pan-Hammarström Q. Abolhassani H, et al. Among authors: bal sk. J Exp Med. 2017 Jan;214(1):91-106. doi: 10.1084/jem.20160849. Epub 2016 Dec 23. J Exp Med. 2017. PMID: 28011864 Free PMC article.
54 results