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janus kinase-3 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

janus kinase-3 deficiency

MONDO:0005511

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Overview

Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.

Clinical Trials1 registered

ResearchLimited published research (4 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

4 publications have been identified in PubMed for janus kinase-3 deficiency. Research spans Basic Science / Preclinical (75%) and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

Jeong PS (2026). [PMID: 40280544](https://pubmed.ncbi.nlm.nih.gov/40280544/). *Journal of advanced research*. [Basic Science / Preclinical]
Li K (2025). [PMID: 40825181](https://pubmed.ncbi.nlm.nih.gov/40825181/). *Chemistry & biodiversity*. [Gene Therapy / Novel Therapeutics]
Wang Z (2024). [PMID: 39506655](https://pubmed.ncbi.nlm.nih.gov/39506655/). *BMC genomics*. [Basic Science / Preclinical]
Liang Y (2024). [PMID: 38625657](https://pubmed.ncbi.nlm.nih.gov/38625657/). *Inflammation research : official journal of the European Histamine Research Society ... [et al.]*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:27 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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janus kinase-3 deficiency

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team