LRBA deficiency is a rare cause of immune dysfunction with immunodeficiency.
Synonym: common variable immunodeficiency 8 with autoimmunity
Chromosome: 4q31.3
Gene: LRBA (lipopolysaccharide-responsive beige-like anchor protein)
Product: expression induced in B cells and macrophages by bacterial lipopolysaccharides (LPS)
Clinical features:
(1) short stature (from growth hormone deficiency)
(2) immunodeficiency (hypogammaglobulinemia)
(3) lymphoproliferation
(4) autoimmune disease
Autoimmune disorders may include:
(1) lupus
(2) immune cytopenia
(3) immune enteropathy
(4) interstitial lung disease
(5) type 1 diabetes mellitus
(6) polyarthritis
(7) uveitis
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Specialty: Immunology/Rheumatology
