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Features include always present findings: Recurrent infection of the gastrointestinal tract, Bronchiectasis, Chronic sinusitis, and Recurrent respiratory infections and others; and common findings: Chronic rhinitis and Nasal polyposis. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 3 | Recurrent infection of the gastrointestinal tract, Recurrent viral infections, Recurrent respiratory infections |
TAP2 function has not been fully characterized.
MHC class I deficiency 2 is associated with mutations in the TAP2 gene on chromosome 6.
Genetic testing for TAP2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 2 common features.
No clinical trials have been registered for MHC class I deficiency 2.
22 publications have been identified in PubMed for MHC class I deficiency 2. Research spans Basic Science / Preclinical (59%), Case Report / Case Series (14%), and Gene Therapy / Novel Therapeutics (14%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 13 | 59% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC
Online Mendelian Inheritance in Man
Common questions about MHC class I deficiency 2
Lungs and breathing | 3 | Bronchiectasis, Recurrent respiratory infections, Chronic bronchitis |
Digestive system | 1 | Recurrent infection of the gastrointestinal tract |
Lab test results | 1 | Cytoplasmic antineutrophil antibody positivity |
3 |
14% |
New treatment approaches | 3 | 14% |
Disease patterns and progression | 2 | 9% |
Research summaries | 1 | 5% |
Li TA (2026). [PMID: 42131824](https://pubmed.ncbi.nlm.nih.gov/42131824/). *Clin Transl Immunology*. [Basic Science / Preclinical]
Chung C (2026). [PMID: 41709679](https://pubmed.ncbi.nlm.nih.gov/41709679/). *Cancer research communications*. [Basic Science / Preclinical]
Kulicke CA (2025). [PMID: 40475583](https://pubmed.ncbi.nlm.nih.gov/40475583/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Moniwa K (2025). [PMID: 39989216](https://pubmed.ncbi.nlm.nih.gov/39989216/). *Cancer science*. [Basic Science / Preclinical]
Gadola SD (2025). [PMID: 42169988](https://pubmed.ncbi.nlm.nih.gov/42169988/). *J Hum Immun*. [Review / Meta-Analysis]
Yu K (2025). [PMID: 40167020](https://pubmed.ncbi.nlm.nih.gov/40167020/). *Cell proliferation*. [Basic Science / Preclinical]
Fangal VD (2025). [PMID: 40224021](https://pubmed.ncbi.nlm.nih.gov/40224021/). *iScience*. [Gene Therapy / Novel Therapeutics]
Shukla A (2025). [PMID: 40820374](https://pubmed.ncbi.nlm.nih.gov/40820374/). *Scandinavian journal of immunology*. [Basic Science / Preclinical]
Haskologlu S (2025). [PMID: 41126834](https://pubmed.ncbi.nlm.nih.gov/41126834/). *Frontiers in immunology*. [Case Report / Case Series]
Lau VWC (2025). [PMID: 39746898](https://pubmed.ncbi.nlm.nih.gov/39746898/). *Nature communications*. [Basic Science / Preclinical]