CRACR2A associated immunodeficiency - the supporting factor takes center stage

Loss of function mutations in one of the core components of the calcium release-activated calcium (CRAC) channel complex, STIM1 and ORAI1, lead to severe immunodeficiency. Whether changes in regulatory components of the CRAC channel may also contribute to a disease state remained unknown. In a recent study, Wu et al. report a case of late onset immunodeficiency in a patient with bi-allelic mutation in CRACR2A, a regulatory component of the CRAC channel.

Automated summary

Loss-of-function mutations in the regulatory component CRACR2A of the CRAC channel may contribute to late onset immunodeficiency.