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Features include always present findings: Recurrent lower respiratory tract infections, Low muscle tone (hypotonia), Lower limb spasticity, and Brain atrophy and others; and very common findings: Failure to thrive and Recurrent pneumonia. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lungs and breathing | 3 | Recurrent lower respiratory tract infections, Recurrent pneumonia, Recurrent upper respiratory tract infections |
RFXANK function has not been fully characterized.
MHC class II deficiency 2 is associated with mutations in the RFXANK gene on chromosome 19.
Genetic testing for RFXANK is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for MHC class II deficiency 2 has been reported in the published literature.
Phenotype severity distribution: 9 always present features, 2 very common features, 2 common features.
No clinical trials have been registered for MHC class II deficiency 2.
35 publications have been identified in PubMed for MHC class II deficiency 2. Research spans Basic Science / Preclinical (74%), Review / Meta-Analysis (11%), and Case Report / Case Series (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 26 | 74% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:18 AM UTC
Online Mendelian Inheritance in Man
Common questions about MHC class II deficiency 2
Blood and immune system | 3 | Recurrent lower respiratory tract infections, Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections |
Brain and nerves | 3 | Global developmental delay, Lower limb spasticity, Brain atrophy |
Digestive system | 3 | Enlarged liver (hepatomegaly), Cytomegalovirus colitis, Chronic diarrhea |
Muscles | 2 | Low muscle tone (hypotonia), Brain atrophy |
Arms and legs | 1 | Lower limb spasticity |
Growth and development | 1 | Failure to thrive |
Lab test results | 1 | Cytoplasmic antineutrophil antibody positivity |
4 |
11% |
Patient case studies | 3 | 9% |
Testing and diagnosis research | 1 | 3% |
Disease patterns and progression | 1 | 3% |
Li X (2026). [PMID: 41984049](https://pubmed.ncbi.nlm.nih.gov/41984049/). *FASEB J*. [Basic Science / Preclinical]
Liu X (2026). [PMID: 41789066](https://pubmed.ncbi.nlm.nih.gov/41789066/). *Front Immunol*. [Basic Science / Preclinical]
Zhang X (2026). [PMID: 41372415](https://pubmed.ncbi.nlm.nih.gov/41372415/). *Nature*. [Basic Science / Preclinical]
Chung C (2026). [PMID: 41709679](https://pubmed.ncbi.nlm.nih.gov/41709679/). *Cancer Res Commun*. [Basic Science / Preclinical]
Low SK (2026). [PMID: 41994077](https://pubmed.ncbi.nlm.nih.gov/41994077/). *J Immunother Precis Oncol*. [Review / Meta-Analysis]
Raymond M (2026). [PMID: 41218151](https://pubmed.ncbi.nlm.nih.gov/41218151/). *J Immunol*. [Basic Science / Preclinical]
Guo W (2026). [PMID: 42125284](https://pubmed.ncbi.nlm.nih.gov/42125284/). *Mo Med*. [Review / Meta-Analysis]
Acha-Sagredo A (2025). [PMID: 39824178](https://pubmed.ncbi.nlm.nih.gov/39824178/). *Cancer Cell*. [Basic Science / Preclinical]
Wu Z (2025). [PMID: 40068706](https://pubmed.ncbi.nlm.nih.gov/40068706/). *Cancer Lett*. [Basic Science / Preclinical]
Ozaki A (2025). [PMID: 40525923](https://pubmed.ncbi.nlm.nih.gov/40525923/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]