Features include always present findings: Persistently decreased total neutrophil count, Recurrent infections, Sepsis, and Decreased class-switched memory B cell proportion and others; and very common findings: Enlarged spleen (splenomegaly) and Decreased circulating total IgM. 44 total HPO annotations.

LRBA encodes LPS responsive beige-like anchor protein (2,863 aa). Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules. Highest expression in Cells EBV-transformed lymphocytes (36.2 TPM) and Skin Sun Exposed Lower leg (19.1 TPM).

Combined immunodeficiency due to LRBA deficiency is caused by mutations in the LRBA gene on chromosome 4.

LRBA is classified as a druggable target (Kinase category) with score 17.4.

Genetic testing for LRBA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined immunodeficiency due to LRBA deficiency has been reported in the published literature.

Phenotype severity distribution: 9 always present features, 2 very common features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for combined immunodeficiency due to LRBA deficiency.

36 publications have been identified in PubMed for combined immunodeficiency due to LRBA deficiency. Research spans Epidemiology / Natural History (47%), Case Report / Case Series (17%), and Basic Science / Preclinical (17%).