Term Name: | immunodeficiency 34 |
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Synonyms: | AMCBX2, familial atypical mycobacteriosis X-linked 2, IMD34, immunodeficiency 34, mycobacteriosis, X-linked, X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency, X-linked MSMD due to CYBB deficiency |
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. |
Ontology: | Human Disease [DOID:0112000] ( DOID:0112000 ) |