agammaglobulinemia 4

Term ID

DOID:0060027

Synonyms

• B cell linker protein deficiency
• B-cell linker protein deficiency
• BLNK deficiency

Definition

An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. https://www.ncbi.nlm.nih.gov/pubmed/10583958

References

• OMIM:613502

Ontology

Human Disease   ( DOID:0060027 )