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Features include always present findings: Palmar warts, Recurrent otitis media, Plantar warts, and Recurrent upper respiratory tract infections and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 1 | Recurrent otitis media |
Lungs and breathing |
CD4 encodes CD4 molecule (458 aa). Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. Highest expression in Spleen (124.3 TPM) and Lung (83.9 TPM).
Immunodeficiency 79 is associated with mutations in the CD4 gene on chromosome 12.
The CD4 protein participates in Degradation of CD4 pathway.
CD4 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Kinase categories) with score 9.8.
Genetic testing for CD4 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for immunodeficiency 79 has been reported in the published literature.
Phenotype severity distribution: 6 always present features.
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
232 publications have been identified in PubMed for immunodeficiency 79. Kisho has analyzed 88 by research type. Research spans Epidemiology / Natural History (43%), Review / Meta-Analysis (23%), and Clinical Trial Publication (10%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 38 |
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
1 |
Recurrent upper respiratory tract infections |
Blood and immune system | 1 | Recurrent upper respiratory tract infections |
Research summaries | 20 | 23% |
Clinical study results | 9 | 10% |
Laboratory research | 9 | 10% |
Testing and diagnosis research | 7 | 8% |
Patient case studies | 3 | 3% |
Other research | 1 | 1% |
New treatment approaches | 1 | 1% |
Alexander JL (2026). [PMID: 41346295](https://pubmed.ncbi.nlm.nih.gov/41346295/). *Blood Adv*. [Clinical Trial Publication]
Cheng L (2026). [PMID: 41630058](https://pubmed.ncbi.nlm.nih.gov/41630058/). *Eur J Med Res*. [Epidemiology / Natural History]
Kubahoniyesu T (2026). [PMID: 41514347](https://pubmed.ncbi.nlm.nih.gov/41514347/). *AIDS Res Ther*. [Epidemiology / Natural History]
Lee GY (2026). [PMID: 41566210](https://pubmed.ncbi.nlm.nih.gov/41566210/). *HIV Res Clin Pract*. [Diagnostic / Biomarker]
El Khalili O (2026). [PMID: 41439671](https://pubmed.ncbi.nlm.nih.gov/41439671/). *J Med Virol*. [Diagnostic / Biomarker]
Cerono G (2026). [PMID: 40919837](https://pubmed.ncbi.nlm.nih.gov/40919837/). *Ann Neurol*. [Epidemiology / Natural History]
Dias Gonçalves Lima F (2025). [PMID: 39718982](https://pubmed.ncbi.nlm.nih.gov/39718982/). *J Infect Dis*. [Diagnostic / Biomarker]
Zheng A (2025). [PMID: 40908808](https://pubmed.ncbi.nlm.nih.gov/40908808/). *J Int AIDS Soc*. [Review / Meta-Analysis]
Mokaddam M (2025). [PMID: 40317972](https://pubmed.ncbi.nlm.nih.gov/40317972/). *HIV Med*. [Clinical Trial Publication]
Bandala-Jacques A (2025). [PMID: 41029528](https://pubmed.ncbi.nlm.nih.gov/41029528/). *BMC Cancer*. [Review / Meta-Analysis]