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

Background: Store-operated Ca entry (SOCE) through Ca release-activated Ca channels is an essential signaling pathway in many cell types. Ca release-activated Ca 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.

In the Modern Era of CT, Do Blunt Trauma Patients with Markers for Blunt Bowel or Mesenteric Injury Still Require Exploratory Laparotomy?

After blunt trauma, certain CT markers, such as free intraperitoneal air, strongly suggest bowel perforation, whereas other markers, including free intraperitoneal fluid without solid organ injury, may be merely suspicious for acute injury. The present study aims to delineate the safety of nonoperative management for markers of blunt bowel or mesenteric injury (BBMI) that are suspicious for significant bowel injury after blunt trauma. This was a retrospective review of adult blunt trauma patients with abdominopelvic CT scans on admission to a Level I trauma center between 2012 and 2014.

Missense mutation in immunodeficient patients shows the multifunctional roles of coiled-coil domain 3 (CC3) in STIM1 activation.

Store-operated Ca(2+) entry (SOCE) is a universal Ca(2+) influx pathway that is important for the function of many cell types. SOCE occurs upon depletion of endoplasmic reticulum (ER) Ca(2+) stores and relies on a complex molecular interplay between the plasma membrane (PM) Ca(2+) channel ORAI1 and the ER Ca(2+) sensor stromal interaction molecule (STIM) 1. Patients with null mutations in ORAI1 or STIM1 genes present with severe combined immunodeficiency (SCID)-like disease.

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.

Stromal interaction molecule 1 (STIM1) deficiency is a rare genetic disorder of store-operated calcium entry, associated with a complex syndrome including immunodeficiency and immune dysregulation. The link from the molecular defect to these clinical manifestations is incompletely understood. We report two patients with a homozygous R429C point mutation in STIM1 completely abolishing store-operated calcium entry in T cells.