ORAI1 mutations abolishing store-operated Ca²⁺ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

ABSTRACT:

Background

Store-operated Ca²⁺ entry (SOCE) through Ca²⁺ release-activated Ca²⁺ channels is an essential signaling pathway in many cell types. Ca²⁺ release-activated Ca²⁺ channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) 1 and STIM2. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms.

Objective

We performed molecular and immunologic analysis of patients with CID, anhidrosis, and ectodermal dysplasia of unknown etiology.

Methods

We performed DNA sequencing of the ORAI1 gene, modeling of mutations on ORAI1 crystal structure, analysis of ORAI

SUBMITTER: Lian J 

PROVIDER: S-EPMC5955830 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature