Literature DB >> 28633876

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.

Christian Klemann1, Sandra Ammann2, Miriam Heizmann2, Sebastian Fuchs2, Sebastian F Bode3, Maximilian Heeg1, Hans Fuchs3, Kai Lehmberg4, Udo Zur Stadt5, Claudia Roll6, Thomas Vraetz3, Carsten Speckmann1, Myriam Ricarda Lorenz7, Klaus Schwarz8, Jan Rohr1, Stefan Feske9, Stephan Ehl10.   

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Year:  2017        PMID： 28633876      PMCID： PMC5723226          DOI： 10.1016/j.jaci.2017.05.039

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  10 in total

1.  The intracellular loop of Orai1 plays a central role in fast inactivation of Ca2+ release-activated Ca2+ channels.

Authors:  Sonal Srikanth; Hea-Jin Jung; Bernard Ribalet; Yousang Gwack
Journal:  J Biol Chem       Date:  2009-12-10       Impact factor: 5.157

Review 2.  The STIM1: Orai Interaction.

Authors:  Irene Frischauf; Marc Fahrner; Isaac Jardín; Christoph Romanin
Journal:  Adv Exp Med Biol       Date:  2016       Impact factor: 2.622

Review 3.  Hemophagocytic syndromes--an update.

Authors:  Gritta E Janka; Kai Lehmberg
Journal:  Blood Rev       Date:  2014-03-22       Impact factor: 8.250

Review 4.  Diseases caused by mutations in ORAI1 and STIM1.

Authors:  Rodrigo S Lacruz; Stefan Feske
Journal:  Ann N Y Acad Sci       Date:  2015-10-15       Impact factor: 5.691

5.  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

6.  The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

Authors:  Sebastian Fn Bode; Sandra Ammann; Waleed Al-Herz; Mihaela Bataneant; Christopher C Dvorak; Stephan Gehring; Andrew Gennery; Kimberly C Gilmour; Luis I Gonzalez-Granado; Ute Groß-Wieltsch; Marianne Ifversen; Jenny Lingman-Framme; Susanne Matthes-Martin; Rolf Mesters; Isabelle Meyts; Joris M van Montfrans; Jana Pachlopnik Schmid; Sung-Yun Pai; Pere Soler-Palacin; Uta Schuermann; Volker Schuster; Markus G Seidel; Carsten Speckmann; Polina Stepensky; Karl-Walter Sykora; Bianca Tesi; Thomas Vraetz; Catherine Waruiru; Yenan T Bryceson; Despina Moshous; Kai Lehmberg; Michael B Jordan; Stephan Ehl
Journal:  Haematologica       Date:  2015-05-28       Impact factor: 9.941

7.  ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis.

Authors:  Andrea Maul-Pavicic; Samuel C C Chiang; Anne Rensing-Ehl; Birthe Jessen; Cyril Fauriat; Stephanie M Wood; Sebastian Sjöqvist; Markus Hufnagel; Ilka Schulze; Thilo Bass; Wolfgang W Schamel; Sebastian Fuchs; Hanspeter Pircher; Christie-Ann McCarl; Katsuhiko Mikoshiba; Klaus Schwarz; Stefan Feske; Yenan T Bryceson; Stephan Ehl
Journal:  Proc Natl Acad Sci U S A       Date:  2011-02-07       Impact factor: 11.205

8.  Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function.

Authors:  Axel R Concepcion; Martin Vaeth; Larry E Wagner; Miriam Eckstein; Lee Hecht; Jun Yang; David Crottes; Maximilian Seidl; Hyosup P Shin; Carl Weidinger; Scott Cameron; Stuart E Turvey; Thomas Issekutz; Isabelle Meyts; Rodrigo S Lacruz; Mario Cuk; David I Yule; Stefan Feske
Journal:  J Clin Invest       Date:  2016-10-10       Impact factor: 14.808

9.  Involvement of p21ras activation in T cell CD69 expression.

Authors:  D D'Ambrosio; D A Cantrell; L Frati; A Santoni; R Testi
Journal:  Eur J Immunol       Date:  1994-03       Impact factor: 5.532

10.  Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.

Authors:  Sandra Ammann; Kai Lehmberg; Udo Zur Stadt; Gritta Janka; Anne Rensing-Ehl; Christian Klemann; Maximilian Heeg; Sebastian Bode; Ilka Fuchs; Stephan Ehl
Journal:  Eur J Immunol       Date:  2017-01-03       Impact factor: 5.532
  10 in total
  6 in total

1.  A calcium optimum for cytotoxic T lymphocyte and natural killer cell cytotoxicity.

Authors:  Xiao Zhou; Kim S Friedmann; Hélène Lyrmann; Yan Zhou; Rouven Schoppmeyer; Arne Knörck; Sebastian Mang; Cora Hoxha; Adrian Angenendt; Christian S Backes; Carmen Mangerich; Renping Zhao; Sabrina Cappello; Gertrud Schwär; Carmen Hässig; Marc Neef; Bernd Bufe; Frank Zufall; Karsten Kruse; Barbara A Niemeyer; Annette Lis; Bin Qu; Carsten Kummerow; Eva C Schwarz; Markus Hoth
Journal:  J Physiol       Date:  2018-03-12       Impact factor: 5.182

2.  Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India.

Authors:  Pandiarajan Vignesh; Gummadi Anjani; Rajni Kumrah; Ankita Singh; Sanjib Mondal; Johnson Nameirakpam; Ankur Jindal; Deepti Suri; Madhubala Sharma; Gurjit Kaur; Sathish Sharma; Kirti Gupta; Sreejesh Sreedharanunni; Amit Rawat; Surjit Singh
Journal:  Front Immunol       Date:  2022-06-23       Impact factor: 8.786

3.  ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

Authors:  Jayson Lian; Mario Cuk; Sascha Kahlfuss; Lina Kozhaya; Martin Vaeth; Frédéric Rieux-Laucat; Capucine Picard; Melina J Benson; Antonia Jakovcevic; Karmen Bilic; Iva Martinac; Peter Stathopulos; Imre Kacskovics; Thomas Vraetz; Carsten Speckmann; Stephan Ehl; Thomas Issekutz; Derya Unutmaz; Stefan Feske
Journal:  J Allergy Clin Immunol       Date:  2017-11-16       Impact factor: 10.793

4.  Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.

Authors:  Christian Klemann; Nadezhda Camacho-Ordonez; Linlin Yang; Zoya Eskandarian; Jessica L Rojas-Restrepo; Natalie Frede; Alla Bulashevska; Maximilian Heeg; Moudjahed Saleh Al-Ddafari; Julian Premm; Maximilian Seidl; Sandra Ammann; Roya Sherkat; Nita Radhakrishnan; Klaus Warnatz; Susanne Unger; Robin Kobbe; Anja Hüfner; T Ronan Leahy; Winnie Ip; Siobhan O Burns; Manfred Fliegauf; Bodo Grimbacher
Journal:  Front Immunol       Date:  2019-03-19       Impact factor: 7.561

Review 5.  Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.

Authors:  Samuel Cern Cher Chiang; Jack J Bleesing; Rebecca A Marsh
Journal:  Front Immunol       Date:  2019-07-23       Impact factor: 7.561

6.  STIM1-mediated calcium influx controls antifungal immunity and the metabolic function of non-pathogenic Th17 cells.

Authors:  Sascha Kahlfuss; Ulrike Kaufmann; Axel R Concepcion; Lucile Noyer; Dimitrius Raphael; Martin Vaeth; Jun Yang; Priya Pancholi; Mate Maus; James Muller; Lina Kozhaya; Alireza Khodadadi-Jamayran; Zhengxi Sun; Patrick Shaw; Derya Unutmaz; Peter B Stathopulos; Cori Feist; Scott B Cameron; Stuart E Turvey; Stefan Feske
Journal:  EMBO Mol Med       Date:  2020-07-01       Impact factor: 12.137
  6 in total

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