Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.
Camille Tremblay-LaganièreCoralie MichaudRaphaël Abourjaili-BilodeauAlicia CabezasJosé CanalesMaría Jesús CostasJoão M RibeiroJessica Leclerc-BlainFabien TouzotElie HaddadPierre TeiraMichel DuvalAlexandros OnoufriadisBrigitte MeunierJosé Carlos CamesellePhilippe M CampeauPublished in: Journal of medical genetics (2024)
Our report suggests that TKFC may have a role in the immunological system. The pathological features associated with this variant are possibly linked with DHA/GA kinase inactivation through a yet an unknown mechanism. This report thus adds a possible new pathway of immunometabolism to explore further.