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Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra.
Kaipiainen-Seppänen O, Punnonen K, van Gijn ME, Mononen T. Kaipiainen-Seppänen O, et al. Among authors: van gijn me. Scand J Rheumatol. 2008 Jan-Feb;37(1):75-6. doi: 10.1080/03009740701691491. Scand J Rheumatol. 2008. PMID: 18189199 No abstract available.
Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence.
Beck C, Girschick HJ, Morbach H, Schwarz T, Yimam T, Frenkel J, van Gijn ME. Beck C, et al. Among authors: van gijn me. Clin Exp Rheumatol. 2011 Nov-Dec;29(6):1040-3. Epub 2011 Dec 22. Clin Exp Rheumatol. 2011. PMID: 22032624
Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.
de Koning HD, van Gijn ME, Stoffels M, Jongekrijg J, Zeeuwen PL, Elferink MG, Nijman IJ, Jansen PA, Neveling K, van der Meer JW, Schalkwijk J, Simon A. de Koning HD, et al. Among authors: van gijn me, van der meer jw. J Allergy Clin Immunol. 2015 Feb;135(2):561-4. doi: 10.1016/j.jaci.2014.07.050. Epub 2014 Sep 16. J Allergy Clin Immunol. 2015. PMID: 25239704 No abstract available.
[DIRA: life-threatening but treatable inherited inflammatory disease].
ter Haar NM, van Royen A, van Gijn ME, Frenkel J. ter Haar NM, et al. Among authors: van gijn me, van royen a. Ned Tijdschr Geneeskd. 2010;154:A1601. Ned Tijdschr Geneeskd. 2010. PMID: 20482912 Dutch.
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T. Tanaka N, et al. Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512. Arthritis Rheum. 2011. PMID: 21702021 Free PMC article.
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW. Stoffels M, et al. Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16. Ann Rheum Dis. 2014. PMID: 23505238
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, André-Schmutz I. Lagresle-Peyrou C, et al. J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4. J Allergy Clin Immunol. 2016. PMID: 27405666
Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells.
Janssen WJM, Grobarova V, Leleux J, Jongeneel L, van Gijn M, van Montfrans JM, Boes M. Janssen WJM, et al. J Allergy Clin Immunol. 2018 Dec;142(6):1947-1955. doi: 10.1016/j.jaci.2018.01.030. Epub 2018 Feb 9. J Allergy Clin Immunol. 2018. PMID: 29432774
Defective calcium signaling and disrupted CD20-B-cell receptor dissociation in patients with common variable immunodeficiency disorders.
van de Ven AA, Compeer EB, Bloem AC, van de Corput L, van Gijn M, van Montfrans JM, Boes M. van de Ven AA, et al. J Allergy Clin Immunol. 2012 Mar;129(3):755-761.e7. doi: 10.1016/j.jaci.2011.10.020. Epub 2011 Nov 30. J Allergy Clin Immunol. 2012. PMID: 22130422
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia.
van Montfrans JM, Hoepelman AI, Otto S, van Gijn M, van de Corput L, de Weger RA, Monaco-Shawver L, Banerjee PP, Sanders EA, Jol-van der Zijde CM, Betts MR, Orange JS, Bloem AC, Tesselaar K. van Montfrans JM, et al. J Allergy Clin Immunol. 2012 Mar;129(3):787-793.e6. doi: 10.1016/j.jaci.2011.11.013. Epub 2011 Dec 24. J Allergy Clin Immunol. 2012. PMID: 22197273 Free PMC article.
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