LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

J Allergy Clin Immunol. 2012 Dec;130(6):1428-32. doi: 10.1016/j.jaci.2012.07.035. Epub 2012 Sep 14.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Agammaglobulinemia / complications
  • Agammaglobulinemia / genetics*
  • Agammaglobulinemia / physiopathology
  • Anemia, Hemolytic / complications
  • Anemia, Hemolytic / genetics*
  • Anemia, Hemolytic / physiopathology
  • Autoimmune Diseases / complications
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / physiopathology
  • Cell Line, Transformed
  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Erythema Nodosum / complications
  • Erythema Nodosum / genetics*
  • Erythema Nodosum / physiopathology
  • Exome / genetics
  • Female
  • Homozygote
  • Humans
  • Sequence Deletion / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • LRBA protein, human