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Metadata
ID DOID:0112000
Name immunodeficiency 34
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 CYBB on chromosome Xp21.1-p11.4.
https://pubmed.ncbi.nlm.nih.gov/17293536/, https://pubmed.ncbi.nlm.nih.gov/21278736/
Xrefs

MESH:C567068

OMIM:300645

UMLS_CUI:C1970859

Synonyms

AMCBX2 [EXACT]

familial atypical mycobacteriosis X-linked 2 [EXACT]

IMD34 [EXACT]

immunodeficiency 34, mycobacteriosis, X-linked [EXACT]

X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency [EXACT]

X-linked MSMD due to CYBB deficiency [EXACT]

Parent Relationships

is_a phagocyte bactericidal dysfunction

is_a X-linked recessive disease

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