immunodeficiency 34 (DOID:0112000)
Alliance: disease page
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
Alt IDs: OMIM:300645, MESH:C567068, UMLS_CUI:C1970859
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.