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Features include always present findings: Reduced MHC II cell surface expression and Failure to thrive; and very common findings: Decreased total T cell count, Decreased circulating total IgM, and Recurrent pneumonia. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lungs and breathing | 2 | Bronchiectasis, Recurrent pneumonia |
RFX5 function has not been fully characterized.
MHC class II deficiency 3 is associated with mutations in the RFX5 gene on chromosome 1.
Genetic testing for RFX5 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for MHC class II deficiency 3 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 3 very common features, 10 common features.
No clinical trials have been registered for MHC class II deficiency 3.
24 publications have been identified in PubMed for MHC class II deficiency 3. Research spans Basic Science / Preclinical (54%), Case Report / Case Series (21%), and Diagnostic / Biomarker (8%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 13 | 54% |
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 3
Digestive system |
2 |
Protracted diarrhea, Enlarged spleen (splenomegaly) |
Bones and joints | 2 | Septic arthritis, Bone infection (osteomyelitis) |
Growth and development | 1 | Failure to thrive |
Ears | 1 | Recurrent otitis media |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
5 |
21% |
Testing and diagnosis research | 2 | 8% |
Research summaries | 2 | 8% |
Disease patterns and progression | 1 | 4% |
New treatment approaches | 1 | 4% |
Chung C (2026). [PMID: 41709679](https://pubmed.ncbi.nlm.nih.gov/41709679/). *Cancer Res Commun*. [Basic Science / Preclinical]
Zhu Z (2026). [PMID: 42161938](https://pubmed.ncbi.nlm.nih.gov/42161938/). *Nat Commun*. [Basic Science / Preclinical]
Zhang X (2026). [PMID: 41372415](https://pubmed.ncbi.nlm.nih.gov/41372415/). *Nature*. [Basic Science / Preclinical]
Sornsuwan K (2026). [PMID: 41824412](https://pubmed.ncbi.nlm.nih.gov/41824412/). *PLoS One*. [Diagnostic / Biomarker]
Nuñez-Nuñez ME (2026). [PMID: 41558066](https://pubmed.ncbi.nlm.nih.gov/41558066/). *Hum Immunol*. [Diagnostic / Biomarker]
Haskologlu S (2026). [PMID: 42099591](https://pubmed.ncbi.nlm.nih.gov/42099591/). *Front Immunol*. [Case Report / Case Series]
Lin L (2026). [PMID: 42233886](https://pubmed.ncbi.nlm.nih.gov/42233886/). *J Exp Med*. [Basic Science / Preclinical]
Tavallaie M (2025). [PMID: 40501724](https://pubmed.ncbi.nlm.nih.gov/40501724/). *bioRxiv*. [Basic Science / Preclinical]
Ozaki A (2025). [PMID: 40525923](https://pubmed.ncbi.nlm.nih.gov/40525923/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Gao X (2025). [PMID: 40585371](https://pubmed.ncbi.nlm.nih.gov/40585371/). *iScience*. [Basic Science / Preclinical]