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Features include always present findings: Recurrent candida infections, Protracted diarrhea, Brain atrophy, and Decreased CD4+ T cell proportion and others; and common findings: Decreased circulating total IgM, Low muscle tone (hypotonia), Global developmental delay, and Ataxia and others. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 3 | Recurrent candida infections, Enlarged spleen (splenomegaly), Decreased total neutrophil count |
RFXAP function has not been fully characterized.
MHC class II deficiency 4 is associated with mutations in the RFXAP gene on chromosome 13.
Genetic testing for RFXAP is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 11 always present features, 7 common features.
No clinical trials have been registered for MHC class II deficiency 4.
22 publications have been identified in PubMed for MHC class II deficiency 4. Research spans Basic Science / Preclinical (59%), Case Report / Case Series (23%), and Epidemiology / Natural History (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 13 | 59% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:51 PM UTC
Online Mendelian Inheritance in Man
Common questions about MHC class II deficiency 4
Digestive system | 3 | Protracted diarrhea, Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly) |
Muscles | 3 | Low muscle tone (hypotonia), Brain atrophy, Lower limb muscle weakness |
Brain and nerves | 3 | Global developmental delay, Ataxia, Brain atrophy |
Growth and development | 2 | Failure to thrive, Postnatal growth retardation |
Arms and legs | 1 | Lower limb muscle weakness |
Ears | 1 | Recurrent otitis media |
Lungs and breathing | 1 | Recurrent pneumonia |
5 |
23% |
Disease patterns and progression | 2 | 9% |
Research summaries | 1 | 5% |
New treatment approaches | 1 | 5% |
Lin L (2026). [PMID: 42233886](https://pubmed.ncbi.nlm.nih.gov/42233886/). *J Exp Med*. [Basic Science / Preclinical]
Kim SI (2026). [PMID: 41025699](https://pubmed.ncbi.nlm.nih.gov/41025699/). *Cancer Immunol Res*. [Basic Science / Preclinical]
Zhang X (2026). [PMID: 41372415](https://pubmed.ncbi.nlm.nih.gov/41372415/). *Nature*. [Basic Science / Preclinical]
Haskologlu S (2026). [PMID: 42099591](https://pubmed.ncbi.nlm.nih.gov/42099591/). *Front Immunol*. [Case Report / Case Series]
Kattra AB (2025). [PMID: 40756102](https://pubmed.ncbi.nlm.nih.gov/40756102/). *Case Reports Immunol*. [Case Report / Case Series]
Sindram E (2025). [PMID: 40550954](https://pubmed.ncbi.nlm.nih.gov/40550954/). *EMBO Rep*. [Basic Science / Preclinical]
Yilei L (2025). [PMID: 40597811](https://pubmed.ncbi.nlm.nih.gov/40597811/). *BMC Nephrol*. [Review / Meta-Analysis]
Oishi K (2025). [PMID: 39868907](https://pubmed.ncbi.nlm.nih.gov/39868907/). *Allergy*. [Basic Science / Preclinical]
López-Porras A (2025). [PMID: 39892681](https://pubmed.ncbi.nlm.nih.gov/39892681/). *Dev Comp Immunol*. [Epidemiology / Natural History]
Afzali AM (2025). [PMID: 39934927](https://pubmed.ncbi.nlm.nih.gov/39934927/). *Acta Neuropathol Commun*. [Case Report / Case Series]