MHC class II deficiency 3
MONDO:0971014Mondo
Findings
No curated finding names MHC class II deficiency 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
20 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.
- Failure to thriveHPOHP:0001508
- 5 of 5 reported patients
- Reduced MHC II cell surface expressionHPOHP:0031390
- 6 of 6 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 7 of 8 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 4 of 5 reported patients
- Decreased total T cell countHPOHP:0005403
- 4 of 5 reported patients
- SepsisHPOHP:0100806
- 4 of 6 reported patients
- CellulitisHPOHP:0100658
- 1 of 2 reported patients
- LymphadenitisHPOHP:0002840
- 1 of 2 reported patients
- Protracted diarrheaHPOHP:0004385
- 4 of 8 reported patients
- Recurrent oral thrushHPOHP:0009098
- 3 of 6 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 4 reported patients
- SplenomegalyHPOHP:0001744
- 1 of 2 reported patients
Show the remaining 8
- BronchiectasisHPOHP:0002110
- 1 of 3 reported patients
- OsteomyelitisHPOHP:0002754
- 1 of 3 reported patients
- Septic arthritisHPOHP:0003095
- 1 of 3 reported patients
- BCGitisHPOHP:0020086
- 1 of 5 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 5 reported patients
- Decreased total B cell countHPOHP:0010976
- 1 of 5 reported patients
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