ITPKB deficiency
MONDO:0800140Mondo
Findings
No curated finding names ITPKB deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.
Definition from the Mondo Disease Ontology (MONDO:0800140), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ITPKBHGNC:6179
- Limited · ClinGen · Autosomal recessive · 2023
Where it sits
- A kind of