Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for PAICS deficiency.
3 publications have been identified in PubMed for PAICS deficiency. Research spans Case Report / Case Series (67%) and Other (33%).
Boussion S (2025). [PMID: 39726239](https://pubmed.ncbi.nlm.nih.gov/39726239/). *Clin Genet*. [Case Report / Case Series]
Weng WC (2025). [PMID: 39604553](https://pubmed.ncbi.nlm.nih.gov/39604553/). *Eur J Hum Genet*. [Case Report / Case Series]
Van Doren L (2024). [PMID: 39119854](https://pubmed.ncbi.nlm.nih.gov/39119854/). *Am J Hematol*. [Other]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 1:58 AM UTC
European rare disease database
Common questions about PAICS deficiency