CTPS1, CTP synthase 1, 1503

N. diseases: 21; N. variants: 3
Disease: Combined immunodeficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2711630
Disease: Combined immunodeficiency disease
Combined immunodeficiency disease 		0.010 Biomarker disease BEFREE We have recently demonstrated that a deficiency in CTPS1 is associated with an impaired capacity of activated lymphocytes to proliferate leading to a combined immunodeficiency disease. 31524312 2019