You are using an outdated browser. Please upgrade your browser to improve your experience.

agammaglobulinemia 4, autosomal recessive

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK 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:0013289:  agammaglobulinemia 4, autosomal recessive
UMLS:C3150752: