A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(–) B cells

Approximately 90% of patients with isolated agammaglobulinemia and failure of B cell development have mutations in genes required for signaling through the pre–B cell and B cell receptors. The nature of the gene defect in the majority of remaining patients is unknown. We recently identified 4 patien...

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Detalhes bibliográficos
Main Authors: Boisson, Bertrand, Wang, Yong-Dong, Bosompem, Amma, Ma, Cindy S., Lim, Annick, Kochetkov, Tatiana, Tangye, Stuart G., Casanova, Jean-Laurent, Conley, Mary Ellen
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2013
Assuntos:
Brief Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3809807/
https://ncbi.nlm.nih.gov/pubmed/24216514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI71927
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