Prepair 1000+

Gene: CTPS1

Green List (high evidence)

Mutations in CTPS1 cause an immunodeficiency characterized by the impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpesviruses, including Epstein-Barr virus (EBV) and varicella zoster virus (VZV); they also suffer from recurrent encapsulated bacterial infections, a spectrum typical of a combined deficiency of adaptive immunity.
8 children from 5 families have been reported who all originated from the northwest of England and had severe chronic viral infections, mostly caused by herpes viruses, including EBV and VZV. All affected children were homozygous for the IVS18-1 G>C splice site mutation (homozygous G-to-C transversion at the -1 position of intron 17), resulting in expression of an abnormal transcript lacking exon 18.
Functional evidence: This splice mutation was found to be deleterious since CTPS1 protein expression could not be detected in lysates of EBV-transformed B cells and T-cell blasts from patients

Created: 30 Oct 2024, 6:07 a.m. | Last Modified: 30 Oct 2024, 6:07 a.m.

Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 24, MIM #615897

Publications

• PMID: 24870241