Agammaglobulinemia 4, mutation in BLK

Last updated on: 10.06.2022


Agammaglobulinemia 4; Agammaglobulinemia 4, autosomal recessive; Agammaglobulinemia Autosomal Recessive Due to Blnk Defect; Agammaglobulinemia, Autosomal Recessive, Due to Blnk Defect; Agammaglobulinemia, Type 4, Autosomal Recessive; Agm4; B Cell Linker Protein Deficiency; B-Cell Linker Protein Deficiency; Blnk Deficiency

This section has been translated automatically.

This very rare variant of autosomal recessive agammaglobulinemia, also known as AGM4, is caused by a homozygous mutation in the BLNK gene (604515) on chromosome 10q23.2. Single case reports of this mutant exist. A corresponding family with this genetic defect has been reported.

Last updated on: 10.06.2022