Name: Immunodeficiency, common variable, 8 | Acronym: CVID8
Alt. names: Immunodeficiency, common variable, 8, with autoimmunity | LRBA deficiency

Gene: LRBA | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 174 | First reported in: 2012

Last updated on: 2023-02-28 16:41:18 by

OMIM: 614700

Orphanet: -

MONDO: -

DOID: -

ClinGen:

An autosomal recessive disorder of immune dysregulation caused by biallelic loss of function mutations in the gene LRBA. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). At least 73 patients from 49 different families have been reported in the literature with this disorder, since its first description in 2012 by Lopez-Herrera et al. And at least 50 different pathogenic loss-of-function mutations in LRBA have been reported, including frameshift, stop-gained, missense, splice-site and small exon deletions.

Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. The condition may include autoimmune phenomena including hematologic manifestations (eg, thrombocytopenia, anemia), and surveillance and early diagnosis and treatment may be beneficial; Automimune manifestations (interstitial lung disease, enteritis) have been reported as responding to a CTLA4-immunoglobin fusion drug.