Agammaglobulinemia 4, autosomal recessive

Definition

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.

Also known as agammaglobulinemia 4, autosomal recessive, agammaglobulinemia, autosomal recessive, due to Blnk defect, AGM4, autosomal agammaglobulinemia caused by mutation in BLNK, B cell linker protein deficiency, BLNK autosomal agammaglobulinemia — per MONDO

Also identified as

• DOID 0060027 per MONDO
• OMIM 613502 per MONDO
• UMLS C3150752 per MONDO