Conditions / Immune
immunodeficiency 34
info · Immune
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
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.
Signs and symptoms
- BCGosis
- Recurrent mycobacterial infections
- Pulmonary tuberculosis
Also known as: 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