Combined Mutation of the GATA2 Gene and STAT5B Gene in a Patient with Hypogammaglobulinemia and Autoimmunity.

Abstract excerpt

Antibody deficiency is a type of primary immunodeficiency that often manifests as primary hypogammaglobulinemia, with or without repeated infections. Although primary immunodeficiency appears to be contrary to autoimmunity, they usually occur simultaneously, and the specific pathogenesis remains unknown. We herein describe an adult patient with autoimmune manifestations and recurrent infections. The case was...

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