Name: Immunodeficiency, common variable, 17 | Acronym: CVID17
Alt. names: Immunodeficiency 47 | IMD47 | ATP6AP1 deficiency

Gene: ATP6AP1 | MOI: X-linked recessive | Mechanism of action:

No. of cases in DB: 3 | First reported in: 2016

Last updated on: 2024-10-03 20:12:16 by Claudia Ballerini

OMIM: 300972

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016). After the first 11 patients from 6 unrelated families described by Jansen et al. in 2016, several additional clinical features have been identified in other patients with this syndrome. These include splenomegaly, pancreatic insufficiency, hearing loss, aortic dilation, connective tissue anomalies (such as cutis laxa), inguinal and umbilical hernias, and minor manifestations like genitourinary abnormalities, scoliosis, joint hypermobility, and mild facial dysmorphisms.

Among other features, individuals may have infantile-onset severe infections (and hypogammaglobulinemia) and awareness may allow preventive measures and early and aggressive treatment of infections. Finally, the need for liver transplantation is frequently reported in clinical cases of this syndrome, due to the frequent and early liver dysfunction.