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Features include always present findings: Intermittent thrombocytopenia; and common findings: Recurrent sinopulmonary infections, Low red blood cell count (anemia), Sepsis, and Chronic diarrhea. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 5 | Recurrent sinopulmonary infections, Low red blood cell count (anemia), Intermittent thrombocytopenia |
TFRC function has not been fully characterized.
TFRC-related combined immunodeficiency is caused by mutations in the TFRC gene on chromosome 3.
Genetic testing for TFRC is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for TFRC-related combined immunodeficiency has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 4 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for TFRC-related combined immunodeficiency.
382 publications have been identified in PubMed for TFRC-related combined immunodeficiency. Kisho has analyzed 224 by research type. Research spans Review / Meta-Analysis (36%), Basic Science / Preclinical (17%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 80 | 36% |
Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 11:36 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about TFRC-related combined immunodeficiency
Brain and nerves |
1 |
Meningitis |
Growth and development | 1 | Failure to thrive |
Eyes | 1 | Conjunctivitis |
Digestive system | 1 | Chronic diarrhea |
Laboratory research |
39 |
17% |
Patient case studies | 36 | 16% |
Disease patterns and progression | 34 | 15% |
Testing and diagnosis research | 22 | 10% |
Clinical study results | 7 | 3% |
New treatment approaches | 5 | 2% |
Other research | 1 | 0% |
Aleebrahim F (2026). [PMID: 41625345](https://pubmed.ncbi.nlm.nih.gov/41625345/). *Iran J Med Sci*. [Review / Meta-Analysis]
Markakis K (2026). [PMID: 41238103](https://pubmed.ncbi.nlm.nih.gov/41238103/). *Metabolism*. [Review / Meta-Analysis]
Sahbani F (2026). [PMID: 41834055](https://pubmed.ncbi.nlm.nih.gov/41834055/). *J Med Case Rep*. [Case Report / Case Series]
Martinez T (2026). [PMID: 41980333](https://pubmed.ncbi.nlm.nih.gov/41980333/). *Curr Opin Immunol*. [Review / Meta-Analysis]
Beliën J (2026). [PMID: 41480770](https://pubmed.ncbi.nlm.nih.gov/41480770/). *J Clin Invest*. [Basic Science / Preclinical]
Miller RZ (2026). [PMID: 41451822](https://pubmed.ncbi.nlm.nih.gov/41451822/). *Curr Opin Allergy Clin Immunol*. [Review / Meta-Analysis]
Khanbabaee G (2026). [PMID: 41620725](https://pubmed.ncbi.nlm.nih.gov/41620725/). *BMC Pulm Med*. [Epidemiology / Natural History]
Manothummetha K (2026). [PMID: 40957775](https://pubmed.ncbi.nlm.nih.gov/40957775/). *Paediatr Respir Rev*. [Review / Meta-Analysis]
Woessner NM (2026). [PMID: 41482192](https://pubmed.ncbi.nlm.nih.gov/41482192/). *Immunol Lett*. [Review / Meta-Analysis]
Kumari R (2026). [PMID: 42146961](https://pubmed.ncbi.nlm.nih.gov/42146961/). *Rom J Ophthalmol*. [Review / Meta-Analysis]