Term Name: | immunodeficiency 33 |
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Synonyms: | IMD33, X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency, X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency, X-linked MSMD due to IKBKG deficiency, X-linked MSMD due to NEMO deficiency |
Definition: | A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. |
Ontology: | Human Disease [DOID:0112003] ( DOID:0112003 ) |