IL7R encodes interleukin 7 receptor (459 aa). Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP) Highest expression in Lung (89.7 TPM) and Small Intestine Terminal Ileum (57.7 TPM).

Immunodeficiency 104 is caused by mutations in the IL7R gene on chromosome 5.

IL7R is classified as a druggable target (Clinically Actionable, Druggable Genome, External Side Of Plasma Membrane, and Tyrosine Kinase categories) with score 17.4.

Genetic testing for IL7R is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 104 has been reported in the published literature.

Phenotype severity distribution: 4 always present features.

No clinical trials have been registered for immunodeficiency 104.

201 publications have been identified in PubMed for immunodeficiency 104. Kisho has analyzed 114 by research type. Research spans Epidemiology / Natural History (46%), Review / Meta-Analysis (21%), and Clinical Trial Publication (11%).

Recent Publications

• Atim SV (2026). [PMID: 41922481](https://pubmed.ncbi.nlm.nih.gov/41922481/). *Sci Rep*. [Epidemiology / Natural History]

• Colson AE (2026). [PMID: 41429026](https://pubmed.ncbi.nlm.nih.gov/41429026/). *Ann Intern Med*. [Clinical Trial Publication]

• Birn FH (2026). [PMID: 41422442](https://pubmed.ncbi.nlm.nih.gov/41422442/). *AIDS Behav*. [Diagnostic / Biomarker]

• Moharrery T (2026). [PMID: 41406772](https://pubmed.ncbi.nlm.nih.gov/41406772/). *Sci Total Environ*. [Basic Science / Preclinical]

• Kasujja FX (2026). [PMID: 41831847](https://pubmed.ncbi.nlm.nih.gov/41831847/). *Lancet*. [Clinical Trial Publication]

• Metcalfe JZ (2026). [PMID: 40915311](https://pubmed.ncbi.nlm.nih.gov/40915311/). *Lancet Infect Dis*. [Clinical Trial Publication]

• Vinciguerra M (2026). [PMID: 41771847](https://pubmed.ncbi.nlm.nih.gov/41771847/). *Cell Death Dis*. [Basic Science / Preclinical]

• Miro JM (2026). [PMID: 41083105](https://pubmed.ncbi.nlm.nih.gov/41083105/). *Clin Microbiol Infect*. [Clinical Trial Publication]

• Gaál Z (2026). [PMID: 41560547](https://pubmed.ncbi.nlm.nih.gov/41560547/). *Pediatr Blood Cancer*. [Diagnostic / Biomarker]

• Li B (2026). [PMID: 42191971](https://pubmed.ncbi.nlm.nih.gov/42191971/). *Ann Hematol*. [Epidemiology / Natural History]