X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Findings
No curated finding names X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.
Definition from the Mondo Disease Ontology (MONDO:0010389), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BCGosisHPOHP:0020087
- 6 of 7 reported patients
- Pulmonary tuberculosisHPOHP:0032262
- 1 of 7 reported patients
- Recurrent mycobacterial infectionsHPOHP:0011274
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYBBHGNC:2578
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
4 names
Resolves to: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
- Also called
- CYBB X-linked mendelian susceptibility to mycobacterial diseasesimmunodeficiency 34, mycobacteriosis, X-linked, X-linked recessiveimmunodeficiency type 34X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB