immunodeficiency 61 (DOID:0111999)
Alliance: disease page
Synonyms: IMD61
Alt IDs: OMIM:300310, MESH:C538057, UMLS_CUI:C1845903
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.