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Features include common findings: Febrile seizure (within the age range of 3 months to 6 years) and Pneumonia. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Febrile seizure (within the age range of 3 months to 6 years) |
RFX5 function has not been fully characterized.
MHC class II deficiency 5 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 5 has been reported in the published literature.
Phenotype severity distribution: 2 common features.
No clinical trials have been registered for MHC class II deficiency 5.
23 publications have been identified in PubMed for MHC class II deficiency 5. Research spans Basic Science / Preclinical (57%), Case Report / Case Series (22%), and Review / Meta-Analysis (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 13 | 57% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:18 PM UTC
Online Mendelian Inheritance in Man
Common questions about MHC class II deficiency 5
1 |
Pneumonia |
Age of onset: infancy.
5 |
22% |
Research summaries | 2 | 9% |
Testing and diagnosis research | 1 | 4% |
Clinical study results | 1 | 4% |
Disease patterns and progression | 1 | 4% |
Dias BRS (2026). [PMID: 41676550](https://pubmed.ncbi.nlm.nih.gov/41676550/). *bioRxiv*. [Basic Science / Preclinical]
Engelhard L (2026). [PMID: 41486423](https://pubmed.ncbi.nlm.nih.gov/41486423/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Lauder E (2026). [PMID: 41876718](https://pubmed.ncbi.nlm.nih.gov/41876718/). *Nat Immunol*. [Basic Science / Preclinical]
Haskologlu S (2026). [PMID: 42099591](https://pubmed.ncbi.nlm.nih.gov/42099591/). *Front Immunol*. [Case Report / Case Series]
Oishi K (2025). [PMID: 39868907](https://pubmed.ncbi.nlm.nih.gov/39868907/). *Allergy*. [Basic Science / Preclinical]
Serreze DV (2025). [PMID: 41081710](https://pubmed.ncbi.nlm.nih.gov/41081710/). *Curr Protoc*. [Review / Meta-Analysis]
Muhamad NDA (2025). [PMID: 39863069](https://pubmed.ncbi.nlm.nih.gov/39863069/). *J Infect Chemother*. [Case Report / Case Series]
Passos I (2025). [PMID: 40426021](https://pubmed.ncbi.nlm.nih.gov/40426021/). *Autophagy*. [Basic Science / Preclinical]
Ozaki A (2025). [PMID: 40525923](https://pubmed.ncbi.nlm.nih.gov/40525923/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Acha-Sagredo A (2025). [PMID: 39824178](https://pubmed.ncbi.nlm.nih.gov/39824178/). *Cancer Cell*. [Basic Science / Preclinical]