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immunodeficiency 61
Summary
- Synonym
-
- 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.
- Super Class
- B cell deficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111999
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
