immunodeficiency 34

Term ID

DOID:0112000

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. (2)

References

• MESH:C567068
• OMIM:300645
• UMLS_CUI:C1970859

Ontology

Human Disease   ( DOID:0112000 )