Spectrum of Phenotypes Associated with Mutations in LRBA

J Clin Immunol. 2016 Jan;36(1):33-45. doi: 10.1007/s10875-015-0224-7. Epub 2015 Dec 28.


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.

Keywords: Primary immunodeficiency disorders (PID); apoptosis; autoimmune disease (AID); autophagy; chronic diarrhea (CD); common variable immunodeficiency (CVID); cytotoxic T-lymphocyte-associated protein 4 (CTLA4); hypogammaglobulinemia (HGG); lipopolysaccharide responsive beige-like anchor protein (LRBA); organomegaly (OM); regulatory T-cells (Treg).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Signal Transducing / metabolism*
  • Adolescent
  • Adult
  • Animals
  • Autoimmunity / genetics
  • Autophagy / genetics
  • Child
  • Child, Preschool
  • Consanguinity
  • Fatal Outcome
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Infant
  • Male
  • Mutation / genetics
  • Pedigree
  • Phenotype
  • Respiratory Insufficiency / diagnosis*
  • Young Adult


  • Adaptor Proteins, Signal Transducing
  • LRBA protein, human