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CRAC channelopathies.
Feske S. Feske S. Pflugers Arch. 2010 Jul;460(2):417-35. doi: 10.1007/s00424-009-0777-5. Epub 2010 Jan 29. Pflugers Arch. 2010. PMID: 20111871 Free PMC article. Review.
ORAI1 (or CRACM1) acts as the pore-forming subunit of the CRAC channel in the plasma membrane. Stromal interaction molecule (STIM) 1 is localized in the ER, senses [Ca2+]ER, and activates the CRAC channel upon store depletion by binding to ORAI1. ...CRAC channelopathies in …
ORAI1 (or CRACM1) acts as the pore-forming subunit of the CRAC channel in the plasma membrane. Stromal interaction molecule (STIM) 1 …
Autosomal-dominant primary immunodeficiencies.
Lawrence T, Puel A, Reichenbach J, Ku CL, Chapgier A, Renner E, Minard-Colin V, Ouachée M, Casanova JL. Lawrence T, et al. Curr Opin Hematol. 2005 Jan;12(1):22-30. doi: 10.1097/01.moh.0000149609.37309.0a. Curr Opin Hematol. 2005. PMID: 15604887 Review.
These primary immunodeficiencies are caused by germline mutations in seven genes: ELA2, encoding a neutrophil elastase, and GFI1, encoding a regulator of ELA2 (mutations associated with severe congenital neutropenia); CXCR4, encoding a chemokine receptor (warts, hypogammaglobulin …
These primary immunodeficiencies are caused by germline mutations in seven genes: ELA2, encoding a neutrophil elastase, and GFI1, encoding a …
Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review.
Kohn LL, Braun M, Cordoro KM, McCalmont TH, Shah SD, Frieden IJ, Mathur AN. Kohn LL, et al. Pediatr Dermatol. 2022 Jan;39(1):84-90. doi: 10.1111/pde.14905. Epub 2022 Jan 5. Pediatr Dermatol. 2022. PMID: 34989033 Review.
MAIN OUTCOMES AND MEASURES: Skin and mucosal characteristics of patients with NEMO syndrome. RESULTS: In addition to ectodermal dysplasia and recurrent infections, male patients had findings of ichthyosis, palmoplantar keratoderma, and inflammatory skin diseases. .. …
MAIN OUTCOMES AND MEASURES: Skin and mucosal characteristics of patients with NEMO syndrome. RESULTS: In addition to ectodermal dy …
Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.
D'Assante R, Fusco A, Palamaro L, Giardino G, Gallo V, Cirillo E, Pignata C. D'Assante R, et al. Int Rev Immunol. 2016;35(1):25-38. doi: 10.3109/08830185.2015.1010724. Epub 2015 Mar 16. Int Rev Immunol. 2016. PMID: 25774666 Review.
Skin and skin annexa abnormalities may be a warning sign of immunodeficiency, since both epidermal and thymic epithelium have ectodermal origin. ...Ectodermal dysplasia (ED) is a group of rare disorders that affect tissues of ectodermal origin. …
Skin and skin annexa abnormalities may be a warning sign of immunodeficiency, since both epidermal and thymic epithelium have ecto …
Human IkappaBalpha Gain of Function: a Severe and Syndromic Immunodeficiency.
Boisson B, Puel A, Picard C, Casanova JL. Boisson B, et al. J Clin Immunol. 2017 Jul;37(5):397-412. doi: 10.1007/s10875-017-0400-z. Epub 2017 Jun 9. J Clin Immunol. 2017. PMID: 28597146 Free PMC article. Review.
Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IkappaBalpha, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identifi …
Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IkappaBalpha, cause an autosomal dominant (AD) form of anhidrotic …
Immunodeficiency due to mutations in ORAI1 and STIM1.
Feske S, Picard C, Fischer A. Feske S, et al. Clin Immunol. 2010 May;135(2):169-82. doi: 10.1016/j.clim.2010.01.011. Epub 2010 Mar 1. Clin Immunol. 2010. PMID: 20189884 Free PMC article. Review.
Mutations in ORAI1 and STIM1 genes in human patients that lead to expression of non-functional ORAI1 or complete lack of ORAI1 or STIM1 protein are associated with a unique clinical phenotype that is characterized by immunodeficiency, muscular hypotonia and anhydrotic e …
Mutations in ORAI1 and STIM1 genes in human patients that lead to expression of non-functional ORAI1 or complete lack of ORAI1 or STIM1 prot …
DISSEMINATED BACILLUS-CALMETTE-GUERIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW.
Ong RYL, Chan SB, Chew SJ, Liew WK, Thoon KC, Chong CY, Yung CF, Sng LH, Tan AM, Bhattacharyya R, Jamuar SS, Lim JY, Li J, Nadua KD, Kam KQ, Tan NW. Ong RYL, et al. Int J Infect Dis. 2020 Aug;97:117-125. doi: 10.1016/j.ijid.2020.05.117. Epub 2020 Jun 2. Int J Infect Dis. 2020. PMID: 32497805 Free article. Review.
BACKGROUND: Disseminated Bacillus Calmette-Guerin (BCG) disease (BCGosis) is a classical feature of children with primary immunodeficiency disorders (PIDs). METHODS: A 15-year retrospective review was conducted in KK Women's and Children's Hospital in Singapore, from Janua …
BACKGROUND: Disseminated Bacillus Calmette-Guerin (BCG) disease (BCGosis) is a classical feature of children with primary immunodeficienc …
Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS, Feske S. Lacruz RS, et al. Ann N Y Acad Sci. 2015 Nov;1356(1):45-79. doi: 10.1111/nyas.12938. Epub 2015 Oct 15. Ann N Y Acad Sci. 2015. PMID: 26469693 Free PMC article. Review.
ORAI1 channels are activated by stromal interaction molecule (STIM) 1 and STIM2 located in the endoplasmic reticulum. Loss- and gain-of-function gene mutations in ORAI1 and STIM1 in human patients cause distinct disease syndromes. CRAC channelopathy is caused by loss-of-fu …
ORAI1 channels are activated by stromal interaction molecule (STIM) 1 and STIM2 located in the endoplasmic reticulum. Loss- and gain- …
Orais and STIMs: physiological mechanisms and disease.
Berna-Erro A, Woodard GE, Rosado JA. Berna-Erro A, et al. J Cell Mol Med. 2012 Mar;16(3):407-24. doi: 10.1111/j.1582-4934.2011.01395.x. J Cell Mol Med. 2012. PMID: 21790973 Free PMC article. Review.
The phenotype of patients bearing mutations in STIM and Orai proteins, together with models of STIM or Orai deficiency in mice, as well as other organisms such as Drosophila melanogaster, have provided compelling evidence on the relevant role of these proteins in cellular physiol …
The phenotype of patients bearing mutations in STIM and Orai proteins, together with models of STIM or Orai deficiency in mice, as well as o …
Aplasia cutis congenita in Korea: Single center experience and literature review.
Yang MY, Ha DL, Kim HS, Ko HC, Kim BS, Kim MB. Yang MY, et al. Pediatr Int. 2020 Jul;62(7):804-809. doi: 10.1111/ped.14192. Epub 2020 Jul 9. Pediatr Int. 2020. PMID: 32037608 Review.
RESULTS: The mean age of patients was 2.62 years, with a male-to-female ratio of 1.03. A minority of patients had a family history (three patients), birth trauma (one patient), maternal drug use (two patients), or human immunodeficiency virus infection (one patient) …
RESULTS: The mean age of patients was 2.62 years, with a male-to-female ratio of 1.03. A minority of patients had a family history (t …
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