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Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.
Biomarker and diagnostic research for ITPKB deficiency has been reported in the published literature.
No clinical trials have been registered for ITPKB deficiency.
4 publications have been identified in PubMed for ITPKB deficiency. Research spans Epidemiology / Natural History (50%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (25%).
Qian J (2025). [PMID: 39792889](https://pubmed.ncbi.nlm.nih.gov/39792889/). *PLoS One*. [Diagnostic / Biomarker]
Rausch T (2025). [PMID: 40670673](https://pubmed.ncbi.nlm.nih.gov/40670673/). *Leukemia*. [Basic Science / Preclinical]
Lange LM (2025). [PMID: 40240380](https://pubmed.ncbi.nlm.nih.gov/40240380/). *NPJ Parkinsons Dis*. [Epidemiology / Natural History]
Lange LM (2024). [PMID: 39711693](https://pubmed.ncbi.nlm.nih.gov/39711693/). *medRxiv*. [Epidemiology / Natural History]
Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC
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Common questions about ITPKB deficiency