Literature DB >> 30949876

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

Laura Rice1, Claire Stockdale2, Ian Berry3, Sean O'Riordan4, Karen Pysden5, Rashida Anwar1, Roger Rushambuza6, Moira Blyth3, Sonal Srikanth7, Yousang Gwack7, Yasser M El-Sherbiny8,9,10, Clive Carter2, Sinisa Savic11,12.   

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Year:  2019        PMID： 30949876     DOI： 10.1007/s10875-019-00618-3

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  17 in total

1.  CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

Authors:  Tatsuya Furuichi; Jin Dai; Tae-Joon Cho; Satoru Sakazume; Masahide Ikema; Yoshito Matsui; Gareth Baynam; Toshiro Nagai; Noriko Miyake; Naomichi Matsumoto; Hirofumi Ohashi; Sheila Unger; Andrea Superti-Furga; Ok-Hwa Kim; Gen Nishimura; Shiro Ikegawa
Journal:  J Med Genet       Date:  2010-10-30       Impact factor: 6.318

2.  A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

Authors:  Ok-Hwa Kim; Gen Nishimura; Hae-Ryong Song; Yoshito Matsui; Satoru Sakazume; Masanobu Yamada; Yoko Narumi; Yasemin Alanay; Sheila Unger; Tae-Joon Cho; Sung Sup Park; Shiro Ikegawa; Peter Meinecke; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

Review 3.  Immunodeficiency due to mutations in ORAI1 and STIM1.

Authors:  Stefan Feske; Capucine Picard; Alain Fischer
Journal:  Clin Immunol       Date:  2010-03-01       Impact factor: 3.969

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

Authors:  Sebastian Fuchs; Anne Rensing-Ehl; Carsten Speckmann; Bertram Bengsch; Annette Schmitt-Graeff; Ilka Bondzio; Andrea Maul-Pavicic; Thilo Bass; Thomas Vraetz; Brigitte Strahm; Tobias Ankermann; Melina Benson; Almuth Caliebe; Regina Fölster-Holst; Petra Kaiser; Robert Thimme; Wolfgang W Schamel; Klaus Schwarz; Stefan Feske; Stephan Ehl
Journal:  J Immunol       Date:  2011-12-21       Impact factor: 5.422

5.  XYLT1 mutations in Desbuquois dysplasia type 2.

Authors:  Catherine Bui; Céline Huber; Beyhan Tuysuz; Yasemin Alanay; Christine Bole-Feysot; Jules G Leroy; Geert Mortier; Patrick Nitschke; Arnold Munnich; Valérie Cormier-Daire
Journal:  Am J Hum Genet       Date:  2014-02-27       Impact factor: 11.025

6.  STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.

Authors:  Capucine Picard; Christie-Ann McCarl; Alexander Papolos; Sara Khalil; Kevin Lüthy; Claire Hivroz; Francoise LeDeist; Frédéric Rieux-Laucat; Gideon Rechavi; Anjana Rao; Alain Fischer; Stefan Feske
Journal:  N Engl J Med       Date:  2009-05-07       Impact factor: 91.245

7.  STIM1 and SLC24A4 Are Critical for Enamel Maturation.

Authors:  S Wang; M Choi; A S Richardson; B M Reid; F Seymen; M Yildirim; E Tuna; K Gençay; J P Simmer; J C Hu
Journal:  J Dent Res       Date:  2014-03-12       Impact factor: 6.116

8.  Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Authors:  Mathilde Nizon; Céline Huber; Fabio De Leonardis; Rodolphe Merrina; Antonella Forlino; Mélanie Fradin; Beyhan Tuysuz; Bassam Y Abu-Libdeh; Yasemin Alanay; Beate Albrecht; Lihadh Al-Gazali; Sarenur Yilmaz Basaran; Jill Clayton-Smith; Julie Désir; Harinder Gill; Marie T Greally; Erkan Koparir; Merel C van Maarle; Sara MacKay; Geert Mortier; Jenny Morton; David Sillence; Catheline Vilain; Ian Young; Klaus Zerres; Martine Le Merrer; Arnold Munnich; Carine Le Goff; Antonio Rossi; Valérie Cormier-Daire
Journal:  Hum Mutat       Date:  2012-05-22       Impact factor: 4.878

9.  Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma.

Authors:  Minji Byun; Avinash Abhyankar; Virginie Lelarge; Sabine Plancoulaine; Ayse Palanduz; Leyla Telhan; Bertrand Boisson; Capucine Picard; Scott Dewell; Connie Zhao; Emmanuelle Jouanguy; Stefan Feske; Laurent Abel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2010-09-27       Impact factor: 14.307

10.  A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients.

Authors:  Stefan Feske; Murali Prakriya; Anjana Rao; Richard S Lewis
Journal:  J Exp Med       Date:  2005-09-05       Impact factor: 14.307
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  4 in total

Review 1.  Human inborn errors of immunity to herpes viruses.

Authors:  Emmanuelle Jouanguy; Vivien Béziat; Trine H Mogensen; Jean-Laurent Casanova; Stuart G Tangye; Shen-Ying Zhang
Journal:  Curr Opin Immunol       Date:  2020-01-31       Impact factor: 7.486

Review 2.  Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.

Authors:  Bin Lin; Raphaela Goldbach-Mansky
Journal:  J Allergy Clin Immunol       Date:  2021-12-08       Impact factor: 10.793

3.  ORAI1 Limits SARS-CoV-2 Infection by Regulating Tonic Type I IFN Signaling.

Authors:  Beibei Wu; Arunachalam Ramaiah; Gustavo Garcia; Spyridon Hasiakos; Vaithilingaraja Arumugaswami; Sonal Srikanth
Journal:  J Immunol       Date:  2021-11-24       Impact factor: 5.422

4.  Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder.

Authors:  Beibei Wu; Laura Rice; Yousang Gwack; Sinisa Savic; Jennifer Shrimpton; Dylan Lawless; Kieran Walker; Clive Carter; Lynn McKeown; Rashida Anwar; Gina M Doody; Sonal Srikanth
Journal:  Elife       Date:  2021-12-15       Impact factor: 8.140
  4 in total

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