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Metadata
DOID DOID:0060027
Name B cell linker protein deficiency
Definition A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.
http://bioinf.uta.fi/BLNKbase/, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604515, http://www.ncbi.nlm.nih.gov/gene/2
Synonyms

B-cell linker protein deficiency [EXACT]

BLNK deficiency [EXACT]

Relationships

is_a agammaglobulinemia

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