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GTR Home > Conditions/Phenotypes > X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

Synonyms
Atypical mycobacteriosis, familial, X-linked 2; IMMUNODEFICIENCY 34; IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous environmental bacteria. Affected individuals are also susceptible to the more virulent species Mycobacterium tuberculosis (Bustamante et al., 2007). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMCBX2, CGD, CGDX, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX, CYBB
    Summary: cytochrome b-245 beta chain

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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