| Metadata | |
|---|---|
| ID | DOID:0112000 |
| Name | immunodeficiency 34 |
| Definition | A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. https://pubmed.ncbi.nlm.nih.gov/17293536/, https://pubmed.ncbi.nlm.nih.gov/21278736/ |
| Xrefs | |
| Synonyms |
AMCBX2 [EXACT] familial atypical mycobacteriosis X-linked 2 [EXACT] IMD34 [EXACT] immunodeficiency 34, mycobacteriosis, X-linked [EXACT] X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency [EXACT] X-linked MSMD due to CYBB deficiency [EXACT] |
| Parent Relationships |