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Metadata
ID	DOID:0111999
Name	immunodeficiency 61
Definition	A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. https://pubmed.ncbi.nlm.nih.gov/29636373/
Xrefs	MESH:C538057 OMIM:300310 UMLS_CUI:C1845903
Synonyms	IMD61 [EXACT]
Parent Relationships	is_a B cell deficiency is_a autosomal recessive disease