Term Name: | immunodeficiency 61 |
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Synonyms: | IMD61 |
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. |
Ontology: | Human Disease [DOID:0111999] ( DOID:0111999 ) |