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immunodeficiency 34 (DOID:0112000)
Alliance: disease page
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
Alt IDs: OMIM:300645, MESH:C567068, UMLS_CUI:C1970859
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory