MHC class II deficiency 2
MONDO:0971013Mondo
Findings
No curated finding names MHC class II deficiency 2 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 · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 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 antigen-specific T cell proliferationHPOHP:0031402
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Lower limb spasticityHPOHP:0002061
- 1 of 1 reported patient
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 1 reported patient
- Recurrent mucocutaneous candidiasisHPOHP:0002728
- 1 of 1 reported patient
- SepsisHPOHP:0100806
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 13 of 16 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 13 of 16 reported patients
- Chronic diarrheaHPOHP:0002028
- 13 of 17 reported patients
Show the remaining 7
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 7 of 16 reported patients
- Cytomegalovirus colitisHPOHP:0033431
- 4 of 16 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 3 of 16 reported patients
- Cytoplasmic antineutrophil antibody positivityHPOHP:0032230
- 2 of 16 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 16 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 16 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.
- RFXANKHGNC:9987
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of