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MIRAGE
immunodeficiency 34
Summary
- Synonym
-
- AMCBX2
- IMD34
- X-linked MSMD due to CYBB deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
- familial atypical mycobacteriosis X-linked 2
- immunodeficiency 34, mycobacteriosis, X-linked
- 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.
- Super Class
- X-linked recessive disease phagocyte bactericidal dysfunction
External Links
- Disease Ontology
- DOID:0112000
- Mondo Disease Ontology
- MeSH
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04839 | NADPH oxidase 2 |
