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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. 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. 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.
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Romberg N, et al. Nat Genet. 2014 Oct;46(10):1135-1139. doi: 10.1038/ng.3066. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217960 Free PMC article.