DISEASES

Disease-gene associations mined from literature

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,  IMD34,  X-linked MSMD due to CYBB deficiency ...