MHC class II deficiency 4
MONDO:0971015Mondo
Findings
No curated finding names MHC class II deficiency 4 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 · Neonatal 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.
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 4 of 4 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 4 of 4 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 4 of 4 reported patients
- Impaired phytohemagglutinin-induced T lymphocyte transformationHPOHP:0025834
- 1 of 1 reported patient
- Inverted CD4:CD8 ratioHPOHP:0033222
- 3 of 3 reported patients
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Protracted diarrheaHPOHP:0004385
- 3 of 3 reported patients
- Recurrent Candida infectionHPOHP:0005401
- 1 of 1 reported patient
- Recurrent pneumoniaHPOHP:0006532
- 3 of 3 reported patients
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 2 of 3 reported patients
Show the remaining 8
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 4 reported patients
- AtaxiaHPOHP:0001251
- 1 of 3 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 1 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 3 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 3 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.
- RFXAPHGNC:9988
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of