Spectrum of Phenotypes Associated with Mutations in LRBA
Journal of clinical immunology, 2016•Springer
To date, several germline mutations have been identified in the LRBA gene in patients
suffering from a variety of clinical symptoms. These mutations abolish the expression of the
LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency,
hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the
clinical and laboratory features of patients with LRBA mutations and present five novel
mutations in eight patients suffering from a multitude of clinical features.
suffering from a variety of clinical symptoms. These mutations abolish the expression of the
LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency,
hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the
clinical and laboratory features of patients with LRBA mutations and present five novel
mutations in eight patients suffering from a multitude of clinical features.
Abstract
To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features.
Springer