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Erschienen in: Journal of Clinical Immunology 3/2019

04.04.2019 | Letter to Editor

A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

verfasst von: Laura Rice, Claire Stockdale, Ian Berry, Sean O’Riordan, Karen Pysden, Rashida Anwar, Roger Rushambuza, Moira Blyth, Sonal Srikanth, Yousang Gwack, Yasser M. El-Sherbiny, Clive Carter, Sinisa Savic

Erschienen in: Journal of Clinical Immunology | Ausgabe 3/2019

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Excerpt

To the Editor, …
Anhänge
Nur mit Berechtigung zugänglich
Literatur
4.
Zurück zum Zitat Srikanth S, Woo JS, Wu B, El-Sherbiny YM, Leung J, Chupradit K, Rice L, Seo GJ, Calmettes G, Ramakrishna C, Cantin E, An DS, Sun R, Wu T-T, Jung JU, Savic S, Gwack Y. STIM1 regulates type I interferon response by retaining STING at the endoplasmic reticulum. Nat Immun 2018- accepted for publication. Srikanth S, Woo JS, Wu B, El-Sherbiny YM, Leung J, Chupradit K, Rice L, Seo GJ, Calmettes G, Ramakrishna C, Cantin E, An DS, Sun R, Wu T-T, Jung JU, Savic S, Gwack Y. STIM1 regulates type I interferon response by retaining STING at the endoplasmic reticulum. Nat Immun 2018- accepted for publication.
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Zurück zum Zitat Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, et al. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A. 2010;152A(4):875–85.CrossRefPubMed Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, et al. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A. 2010;152A(4):875–85.CrossRefPubMed
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Zurück zum Zitat Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, et al. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat. 2012;33(8):1261–6.CrossRefPubMedPubMedCentral Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, et al. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat. 2012;33(8):1261–6.CrossRefPubMedPubMedCentral
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Zurück zum Zitat Maus M, Jairaman A, Stathopulos PB, Muik M, Fahrner M, Weidinger C, et al. Missense mutation in immunodeficient patients shows the multifunctional roles of coiled-coil domain 3 (CC3) in STIM1 activation. Proc Natl Acad Sci U S A. 2015;112(19):6206–11.CrossRefPubMedPubMedCentral Maus M, Jairaman A, Stathopulos PB, Muik M, Fahrner M, Weidinger C, et al. Missense mutation in immunodeficient patients shows the multifunctional roles of coiled-coil domain 3 (CC3) in STIM1 activation. Proc Natl Acad Sci U S A. 2015;112(19):6206–11.CrossRefPubMedPubMedCentral
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Zurück zum Zitat Lian J, Cuk M, Kahlfuss S, Kozhaya L, Vaeth M, Rieux-Laucat F, et al. ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency. J Allergy Clin Immunol. 2018;142(4):1297–1310.e1.CrossRefPubMed Lian J, Cuk M, Kahlfuss S, Kozhaya L, Vaeth M, Rieux-Laucat F, et al. ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency. J Allergy Clin Immunol. 2018;142(4):1297–1310.e1.CrossRefPubMed
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Zurück zum Zitat Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, et al. STIM1 and SLC24A4 are critical for enamel maturation. J Dent Res. 2014;12:94S–100S.CrossRef Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, et al. STIM1 and SLC24A4 are critical for enamel maturation. J Dent Res. 2014;12:94S–100S.CrossRef
Metadaten
Titel
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype
verfasst von
Laura Rice
Claire Stockdale
Ian Berry
Sean O’Riordan
Karen Pysden
Rashida Anwar
Roger Rushambuza
Moira Blyth
Sonal Srikanth
Yousang Gwack
Yasser M. El-Sherbiny
Clive Carter
Sinisa Savic
Publikationsdatum
04.04.2019
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 3/2019
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-00618-3

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