Immunodeficiency, Common Variable, 8, with Autoimmunity

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive common variable immunodeficiency caused by mutation(s) in the LRBA gene, encoding lipopolysaccharide-responsive and beige-like anchor protein. It is characterized by recurrent infections and the development of autoimmune disorders.

**Synonyms:** - CVID8 - LRBA Deficiency