This is a preview of subscription content, log in via an institution to check access.
References
Picard C, McCarl C-A, Papolos A, Khalil S, Lüthy K, Hivroz C, et al. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med. 2009;360(19):1971–80. https://doi.org/10.1056/NEJMoa0900082.
Feske S, Prakriya M, Rao A, Lewis RS. A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients. J Exp Med. 2005;202(5):651–62. https://doi.org/10.1084/jem.20050687.
Feske S, Picard C, Fischer A. Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol (Orlando, FL). 2010;135(2):169–82. https://doi.org/10.1016/j.clim.2010.01.011.
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.
Furuichi T, Dai J, Cho T, et al. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet. 2011;48:32–7. https://doi.org/10.1136/jmg.2010.080226.
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.
Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, et al. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. Am J Med Genet A. 2017;173(9):2415–21. https://doi.org/10.1002/ajmg.a.38349.
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.
Bui C, Huber C, Tuysuz B, Alanay Y. 1 mutations in Desbuquois dysplasia type 2. Am J Hum Genet. 2014;94(3):405–14.
Parry DA, Holmes TD, Gamper N, el-Sayed W, Hettiarachchi NT, Ahmed M, et al. A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. J Allergy Clin Immunol. 2016;137(3):955–957.e8. https://doi.org/10.1016/j.jaci.2015.08.051.
Byun M, Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan L, et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med. 2010;207(11):2307–12. https://doi.org/10.1084/jem.20101597.
Fuchs S, Rensing-Ehl A, Speckmann C, Bengsch B, Schmitt-Graeff A, Bondzio I, et al. Antiviral and regulatory T cell immunity in a patient with STIM1 deficiency. J Immunol (Baltimore, Md : 1950). 2012;188(3):1523–33. https://doi.org/10.4049/jimmunol.1102507.
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.
Canna SW, Goldbach-Mansky R. New monogenic autoinflammatory diseases--a clinical overview. Semin Immunopathol. 2015;37(4):387–94.
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.
Schaballie H, Rodriguez R, Martin E, Moens L, Frans G, Lenoir C, et al. A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency. J Allergy Clin Immunol. 2015;136(3):816–819.e4. https://doi.org/10.1016/j.jaci.2015.03.009.
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.
Funding
This research is supported by a grant from the CSL Behring and by the National Institute for Health Research (NIHR) Leeds Biomedical Research Centre.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of Interest
The authors declare that they have no conflicts of interest.
Disclaimer
The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health.
Additional information
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Electronic supplementary material
ESM 1
(DOCX 147 kb)
Supplementary Figure 1
TCR repertoire as assessed by T receptor spectra phenotyping. The arrow is showing a missing Vb7.2 expression on patients’ T cells. (PNG 368 kb)
Supplementary Figure 2
A) Phytohaemagglutinin (PHA, 3 differed concentrations 5,10 and 100 μg/ml) and anti-CD3 T cell proliferation (P1 red 2 separate experiments) Healthy controls (HC black) X3 B) CD69, HLA-DR and CD25 expression on T cells from the patient (P1 red) and 3 HC black following stimulation with anti-CD3 for 48 h (PNG 590 kb)
Rights and permissions
About this article
Cite this article
Rice, L., Stockdale, C., Berry, I. et al. A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype. J Clin Immunol 39, 249–256 (2019). https://doi.org/10.1007/s10875-019-00618-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10875-019-00618-3