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CVID-associated TACI mutations affect autoreactive B cell selection and activation.
Romberg N, Chamberlain N, Saadoun D, Gentile M, Kinnunen T, Ng YS, Virdee M, Menard L, Cantaert T, Morbach H, Rachid R, Martinez-Pomar N, Matamoros N, Geha R, Grimbacher B, Cerutti A, Cunningham-Rundles C, Meffre E. Romberg N, et al. Among authors: geha r. J Clin Invest. 2013 Oct;123(10):4283-93. doi: 10.1172/JCI69854. Epub 2013 Sep 24. J Clin Invest. 2013. PMID: 24051380 Free PMC article.
TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.
Romberg N, Virdee M, Chamberlain N, Oe T, Schickel JN, Perkins T, Cantaert T, Rachid R, Rosengren S, Palazzo R, Geha R, Cunningham-Rundles C, Meffre E. Romberg N, et al. Among authors: geha r. J Allergy Clin Immunol. 2015 Nov;136(5):1315-25. doi: 10.1016/j.jaci.2015.05.012. Epub 2015 Jun 19. J Allergy Clin Immunol. 2015. PMID: 26100089 Free PMC article.
Defective TLR9-driven STAT3 activation in B cells of patients with CVID.
Borzutzky A, Rauter I, Fried A, Rachid R, McDonald DR, Hammarstrom L, Grimbacher B, Abraham RS, Geha RS. Borzutzky A, et al. Among authors: geha rs. Clin Immunol. 2018 Dec;197:40-44. doi: 10.1016/j.clim.2018.08.008. Epub 2018 Aug 23. Clin Immunol. 2018. PMID: 30145329
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.
Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS. Massaad MJ, et al. J Clin Invest. 2016 Nov 1;126(11):4219-4236. doi: 10.1172/JCI85647. Epub 2016 Oct 17. J Clin Invest. 2016. PMID: 27760045 Free PMC article.
Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.
Janssen E, Morbach H, Ullas S, Bannock JM, Massad C, Menard L, Barlan I, Lefranc G, Su H, Dasouki M, Al-Herz W, Keles S, Chatila T, Geha RS, Meffre E. Janssen E, et al. J Allergy Clin Immunol. 2014 Dec;134(6):1365-1374. doi: 10.1016/j.jaci.2014.07.042. Epub 2014 Sep 11. J Allergy Clin Immunol. 2014. PMID: 25218284 Free PMC article.
Regulation of immunoglobulin (Ig)E synthesis in the hyper-IgE syndrome.
Vercelli D, Jabara HH, Cunningham-Rundles C, Abrams JS, Lewis DB, Meyer J, Schneider LC, Leung DY, Geha RS. Vercelli D, et al. Among authors: geha rs. J Clin Invest. 1990 May;85(5):1666-71. doi: 10.1172/JCI114618. J Clin Invest. 1990. PMID: 2110192 Free PMC article.
699 results