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Features include always present findings: Glomerulonephritis and Recurrent shingles. 3 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 1 | Glomerulonephritis |
Lungs and breathing |
TAPBP function has not been fully characterized.
MHC class I deficiency 3 is associated with mutations in the TAPBP gene on chromosome 6.
Genetic testing for TAPBP is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features.
No clinical trials have been registered for MHC class I deficiency 3.
15 publications have been identified in PubMed for MHC class I deficiency 3. Research spans Basic Science / Preclinical (67%), Review / Meta-Analysis (13%), and Case Report / Case Series (13%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 10 | 67% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC
Online Mendelian Inheritance in Man
Common questions about MHC class I deficiency 3
1
Recurrent respiratory infections |
Blood and immune system | 1 | Recurrent respiratory infections |
2 |
13% |
Patient case studies | 2 | 13% |
Disease patterns and progression | 1 | 7% |
Bonolo de Campos C (2026). [PMID: 41191517](https://pubmed.ncbi.nlm.nih.gov/41191517/). *Blood*. [Basic Science / Preclinical]
Wang Y (2026). [PMID: 41758652](https://pubmed.ncbi.nlm.nih.gov/41758652/). *Cell Rep*. [Basic Science / Preclinical]
Chung C (2026). [PMID: 41709679](https://pubmed.ncbi.nlm.nih.gov/41709679/). *Cancer Res Commun*. [Basic Science / Preclinical]
Moniwa K (2025). [PMID: 39989216](https://pubmed.ncbi.nlm.nih.gov/39989216/). *Cancer Sci*. [Basic Science / Preclinical]
Ponsford MJ (2025). [PMID: 41298860](https://pubmed.ncbi.nlm.nih.gov/41298860/). *J Clin Immunol*. [Case Report / Case Series]
Haskologlu S (2025). [PMID: 41126834](https://pubmed.ncbi.nlm.nih.gov/41126834/). *Front Immunol*. [Epidemiology / Natural History]
Song L (2025). [PMID: 40805243](https://pubmed.ncbi.nlm.nih.gov/40805243/). *Cancers (Basel)*. [Review / Meta-Analysis]
Shirasawa E (2025). [PMID: 40700124](https://pubmed.ncbi.nlm.nih.gov/40700124/). *NeuroSci*. [Basic Science / Preclinical]
Agarwal M (2025). [PMID: 40463006](https://pubmed.ncbi.nlm.nih.gov/40463006/). *bioRxiv*. [Basic Science / Preclinical]
Shukla A (2025). [PMID: 40820374](https://pubmed.ncbi.nlm.nih.gov/40820374/). *Scand J Immunol*. [Basic Science / Preclinical]