immunodeficiency 61

Term ID

DOID:0111999

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. https://pubmed.ncbi.nlm.nih.gov/29636373/

References

• MESH:C538057
• OMIM:300310
• UMLS_CUI:C1845903

Ontology

Human Disease   ( DOID:0111999 )