Name: Agammaglobulinemia 5 | Acronym: AGM5
Alt. names: Agammaglobulinemia type 5

Gene: LRRC8A | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2003

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

OMIM: 613506

Orphanet: -

MONDO: -

DOID: -

ClinGen:

To date only one mutation in this gene has been reported. The patient exhibited congenital agammaglobulinemia, lack of B cells and minor facial anomalies (Sawada et al. 2003). The authors detected a genomic translocation between chromosomes 9 and 20 that resulted in truncation of the LRRC8A gene. This new form of autosomal dominant agammaglobulinemia is known as Agammaglobulinemia type 5 [MIM:613506]. In addition, the knockout Lrrc8a mouse model shows abnormal T-cell development and function, and a modest block in B cell development but intact intrinsic B cell function. Lrrc8a(-/-) mice also had increased prenatal and postnatal mortality, growth retardation, and multiple tissue abnormalities.

Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial.