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Journal Articles

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Charlotte Boussard, Laure Delage, Tania Gajardo, Alexandre Kauskot, Maxime Batignes, Nicolas Goudin, Marie-Claude Stolzenberg, Camille Brunaud, Patricia Panikulam, Quentin Riller, Maryse Moya-Nilges, Jean Solarz, Christelle Repérant, Béatrice Durel, Jean-Claude Bordet, Olivier Pellé, Corinne Lebreton, Aude Magérus, Vithura Pirabakaran, Pablo Vargas, Sébastien Dupichaud, Marie Jeanpierre, Angélique Vinit, Mohammed Zarhrate, Cécile Masson, Nathalie Aladjidi, Peter D. Arkwright, Brigitte Bader-Meunier, Sandrine Baron Joly, Joy Benadiba, Elise Bernard, Dominique Berrebi, Christine Bodemer, Martin Castelle, Fabienne Charbit-Henrion, Marwa Chbihi, Agathe Debray, Philippe Drabent, Sylvie Fraitag, Miguel Hié, Judith Landman-Parker, Ludovic Lhermitte, Despina Moshous, Pierre Rohrlich, Frank Ruemmele, Anne Welfringer-Morin, Maud Tusseau, Alexandre Belot, Nadine Cerf-Bensussan, Marie Roelens, Capucine Picard, Bénédicte Neven, Alain Fischer, Isabelle Callebaut, Mickaël Ménager, Fernando E. Sepulveda, Frédéric Adam, Frédéric Rieux-Laucat

Blood (2023) 141 (22): 2713–2726.

https://doi.org/10.1182/blood.2022018486

Published: 2023

Includes: Supplemental data

Journal Articles

HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma

Gabrielle Sonigo, Maxime Battistella, Marie Beylot-Barry, Saskia Ingen-Housz-Oro, Nathalie Franck, Stéphane Barete, Serge Boulinguez, Olivier Dereure, Nathalie Bonnet, Gérard Socié, Pauline Brice, Olivia Boccara, Christine Bodemer, Henri Adamski, Michel D’Incan, Nicolas Ortonne, Sylvie Fraitag, Florence Brunet-Possenti, Stephane Dalle, Felipe Suarez, Ambroise Marçais, François Skowron, Dima Haidar, Eve Maubec, Gerome Bohelay, Liliane Laroche, Antoine Mahé, Elodie Birckel, Jean-David Bouaziz, Isabelle Brocheriou, Romain Dubois, Sarah Faiz, Jehane Fadlallah, Caroline Ram-Wolff, Agnes Carlotti, Guido Bens, Brigitte Balme, Beatrice Vergier, Sara Laurent-Roussel, Lydia Deschamps, Olivier Carpentier, Philippe Moguelet, Genevieve Herve, François Comoz, François Le Gall, Guy Leverger, Antoine Finon, Olivier Augereau, Claire Bléchet, Remy Kerdraon, Laurence Lamant, Emilie Tournier, Frédéric Franck, Valérie Costes-Martineau, Vanessa Szablewski, Sebastien Taix, Isabelle Beschet, Frédéric Guerin, Fernando E. Sepulveda, Martine Bagot, Genevieve de Saint Basile, David Michonneau, Adele de Masson

Blood (2020) 135 (13): 1058–1061.

https://doi.org/10.1182/blood.2019003811

Published: 2020

Includes: Supplemental data

Journal Articles

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice

Sophia Maschalidi, Fernando E. Sepulveda, Alexandrine Garrigue, Alain Fischer, Geneviève de Saint Basile

Blood (2016) 128 (1): 60–71.

https://doi.org/10.1182/blood-2016-02-700013

Published: 2016

Includes: Supplemental data

Journal Articles

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

Fernando E. Sepulveda, Alexandrine Garrigue, Sophia Maschalidi, Meriem Garfa-Traore, Gaël Ménasché, Alain Fischer, Geneviève de Saint Basile

Blood (2016) 127 (17): 2113–2121.

https://doi.org/10.1182/blood-2015-12-688960

Published: 2016

Includes: Supplemental data

Journal Articles

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice

Fernando E. Sepulveda, Sophia Maschalidi, Christian A. J. Vosshenrich, Alexandrine Garrigue, Mathieu Kurowska, Gael Ménasche, Alain Fischer, James P. Di Santo, Geneviève de Saint Basile

Blood (2015) 125 (9): 1427–1434.

https://doi.org/10.1182/blood-2014-09-602946

Published: 2015

Includes: Supplemental data

Journal Articles

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

Fernando E. Sepulveda, Franck Debeurme, Gaël Ménasché, Mathieu Kurowska, Marjorie Côte, Jana Pachlopnik Schmid, Alain Fischer, Geneviève de Saint Basile

Blood (2013) 121 (4): 595–603.

https://doi.org/10.1182/blood-2012-07-440339

Published: 2013

Includes: Supplemental data

NARROW

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

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ASH Publications

American Society of Hematology

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11

Email alerts

ASH Publications

American Society of Hematology

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