Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia

X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency syndrome associated with the inability to control Epstein-Barr virus (EBV), lymphoma, and hypogammaglobulinemia. XLP is caused by mutations in the SH2D1A gene, which encodes the SLAM-associated protein (SAP), or in the BIRC4 ge...

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Detalhes bibliográficos
Main Authors: Recher, Mike, Fried, Ari J., Massaad, Michel J., Kim, Hye Young, Rizzini, Michela, Frugoni, Francesco, Walter, Jolan E., Mathew, Divij, Eibel, Hermann, Hess, Christoph, Giliani, Silvia, Umetsu, Dale T., Notarangelo, Luigi D., Geha, Raif S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3742382/
https://ncbi.nlm.nih.gov/pubmed/23280491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clim.2012.11.007
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