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Mutations of the Igbeta gene cause agammaglobulinemia in man.
Ferrari S, Lougaris V, Caraffi S, Zuntini R, Yang J, Soresina A, Meini A, Cazzola G, Rossi C, Reth M, Plebani A. Ferrari S, et al. J Exp Med. 2007 Sep 3;204(9):2047-51. doi: 10.1084/jem.20070264. Epub 2007 Aug 20. J Exp Med. 2007. PMID: 17709424 Free PMC article.
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
Lanzi G, Ferrari S, Vihinen M, Caraffi S, Kutukculer N, Schiaffonati L, Plebani A, Notarangelo LD, Fra AM, Giliani S. Lanzi G, et al. Blood. 2010 Dec 23;116(26):5867-74. doi: 10.1182/blood-2010-03-274241. Epub 2010 Aug 11. Blood. 2010. PMID: 20702779 Free article.