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agammaglobulinemia 5, autosomal dominant

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.
Uniprot Description A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Mondo Term and Equivalent IDs
MONDO:0013290:  agammaglobulinemia 5, autosomal dominant
DOID:0080588: 
UMLS:C3150753: