| Metadata | |
|---|---|
| ID | DOID:0112003 |
| Name | immunodeficiency 33 |
| 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. https://pubmed.ncbi.nlm.nih.gov/15356572/, https://pubmed.ncbi.nlm.nih.gov/31965418/ |
| Xrefs | |
| Synonyms |
IMD33 [EXACT] X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency [EXACT] X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency [EXACT] X-linked MSMD due to IKBKG deficiency [EXACT] X-linked MSMD due to NEMO deficiency [EXACT] |
| Parent Relationships |