Human genes for immunodeficiency 34
Immunodeficiency 34 [DOID:0112000]
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 CYBB on chromosome Xp21.1-p11.4.
Synonyms: immunodeficiency 34, DOID:0112000, AMCBX2, familial atypical mycobacteriosis X-linked 2, IMD34 ...