MHC class II deficiency 5
MONDO:0971016Mondo
Findings
No curated finding names MHC class II deficiency 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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.
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 2 reported patients · Infantile onset
- PneumoniaHPOHP:0002090
- 1 of 2 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- Decreased circulating IgG concentrationHPOHP:0004315
- Decreased circulating IgM concentrationHPOHP:0002850
- Reduced MHC II cell surface expressionHPOHP:0031390
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.
- RFX5HGNC:9986
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of