Biomarker and diagnostic research for short-limb skeletal dysplasia with severe combined immunodeficiency has been reported in the published literature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for short-limb skeletal dysplasia with severe combined immunodeficiency.

206 publications have been identified in PubMed for short-limb skeletal dysplasia with severe combined immunodeficiency. Kisho has analyzed 103 by research type. Research spans Review / Meta-Analysis (68%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (8%).

Recent Publications

• Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]

• Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]

• Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]

• Mak CCY (2025). [PMID: 40280028](https://pubmed.ncbi.nlm.nih.gov/40280028/). *EBioMedicine*. [Diagnostic / Biomarker]

• Gencer NS (2025). [PMID: 41291504](https://pubmed.ncbi.nlm.nih.gov/41291504/). *BMC Geriatr*. [Epidemiology / Natural History]

• Chen ZY (2025). [PMID: 40740820](https://pubmed.ncbi.nlm.nih.gov/40740820/). *Front Pediatr*. [Case Report / Case Series]

• Dotan A (2025). [PMID: 39931017](https://pubmed.ncbi.nlm.nih.gov/39931017/). *Harefuah*. [Review / Meta-Analysis]

• Yacoub MR (2025). [PMID: 40747632](https://pubmed.ncbi.nlm.nih.gov/40747632/). *Curr Opin Allergy Clin Immunol*. [Review / Meta-Analysis]

• Walther LE (2025). [PMID: 40192781](https://pubmed.ncbi.nlm.nih.gov/40192781/). *HNO*. [Review / Meta-Analysis]

• Biglari S (2025). [PMID: 40101970](https://pubmed.ncbi.nlm.nih.gov/40101970/). *J Med Genet*. [Basic Science / Preclinical]