Features include always present findings: Cholestasis, Low muscle tone (hypotonia), Type II transferrin isoform profile, and Elevated circulating alanine aminotransferase concentration and others; and very common findings: Chronic decreased circulating total IgG, Decreased circulating immunoglobulin concentration, and Abnormal protein O-linked glycosylation. 42 total HPO annotations.

ATP6AP1 encodes ATPase H+ transporting accessory protein 1 (470 aa). Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Highest expression in Brain Cerebellar Hemisphere (159.2 TPM) and Brain Cerebellum (139.0 TPM).

Immunodeficiency 47 is associated with mutations in the ATP6AP1 gene on chromosome X.

ATP6AP1 is classified as a druggable target (Enzyme category) with score 1.7.

Genetic testing for ATP6AP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 47 has been reported in the published literature.

Phenotype severity distribution: 25 always present features, 3 very common features, 11 common features.

No clinical trials have been registered for immunodeficiency 47.

238 publications have been identified in PubMed for immunodeficiency 47. Research spans Epidemiology / Natural History (51%), Review / Meta-Analysis (18%), and Clinical Trial Publication (10%).