immunodeficiency 33
MONDO:0010386Mondo
Findings
No curated finding names immunodeficiency 33 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.
Definition from the Mondo Disease Ontology (MONDO:0010386), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
9 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.
- ImmunodeficiencyHPOHP:0002721
- 1 of 1 reported patient
- Pneumocystis jirovecii pneumoniaHPOHP:0020102
- 1 of 1 reported patient
- Recurrent bacterial infectionsHPOHP:0002718
- 2 of 2 reported patients
- Conical toothHPOHP:0000698
- 4 of 5 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 2 reported patients
- Increased circulating IgA concentrationHPOHP:0003261
- 1 of 2 reported patients
- HypodontiaHPO
Where it sits
Other names
14 names
Resolves to: immunodeficiency 33
- Also called
- IKBKG invasive pneumococcal disease, recurrent isolatedIKBKG X-linked mendelian susceptibility to mycobacterial diseasesIMD33immunodeficiency 33, Mycobacteriosis, X-linkedimmunodeficiency 33, X-linked recessiveimmunodeficiency type 33immunodeficiency without anhidrotic ectodermal dysplasiaimmunodeficiency, isolatedimmunodeficiency, pureinvasive pneumococcal disease, recurrent isolated caused by mutation in IKBKGinvasive pneumococcal disease, recurrent isolated, 2invasive pneumococcal disease, recurrent isolated, type 2IPD2X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG