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Journal Articles

Whole Exome Sequencing of Patients with Adult-Onset Evans Syndrome: A Cohort of 80 Patients

Blood (2023) 142 (Supplement 1): 799.

https://doi.org/10.1182/blood-2023-174512

Published: 2023

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

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes

Blood (2019) 134 (1): 9–21.

https://doi.org/10.1182/blood-2018-11-887141

Published: 2019

Includes: Supplemental data

Journal Articles

Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients

Blood (2014) 124 (10): 1597–1609.

https://doi.org/10.1182/blood-2014-02-553834

Published: 2014

Includes: Supplemental data

Journal Articles

RAS -associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia

Nina Lanzarotti, Julie Bruneau, Amélie Trinquand, Marie-Claude Stolzenberg, Bénédicte Neven, Julien Fregeac, Eva Levy, Nadia Jeremiah, Felipe Suarez, Nizar Mahlaoui, Alain Fischer, Aude Magerus-Chatinet, Hélène Cavé, Frédéric Rieux-Laucat

Blood (2014) 123 (12): 1960–1963.

https://doi.org/10.1182/blood-2014-01-548958

Published: 2014

Journal Articles

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

Blood (2011) 118 (18): 4798–4807.

https://doi.org/10.1182/blood-2011-04-347641

Published: 2011

Journal Articles

Onset of Autoimmunity In ALPS as a Consequence of Genetic Defects Accumulation

Aude Magerus-Chatinet, Benedicte Neven, Marie-Claude Stolzenberg, Cecile Daussy, Peter Arkwright, Marina Cavazzana-Calvo, MD, PhD, Capucine Picard, Alain Fischer, Frederic Rieux-Laucat

Blood (2010) 116 (21): 278.

https://doi.org/10.1182/blood.V116.21.278.278

Published: 2010

Journal Articles

Human Adenylate Kinase 2 Deficiency Inhibits Hematopoietic Cell Differentiation towards Neutrophil and T Lymphoid Lineages.

Emmanuelle M. Six, PhD, Chantal Lagresle-Peyrou, PhD, Corinne Demerens-deChappedelaine, PhD, Frederic Rieux-Laucat, PhD, Andrea Didati, PhD, Marie-Claude Stolzenberg, Bruno Cassinat, Pharm.D, Christine Chomienne, MD, PhD, Alain Fischer, MD, PhD, Marina Cavazzana-Calvo, MD, PhD

Blood (2009) 114 (22): 78.

https://doi.org/10.1182/blood.V114.22.78.78

Published: 2009

Journal Articles

FAS-L, IL-10, and double-negative CD4 − CD8 − TCR α/β + T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

Blood (2009) 113 (13): 3027–3030.

https://doi.org/10.1182/blood-2008-09-179630

Published: 2009

Includes: Supplemental data

Journal Articles

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes

Véronique Mateo, Michael Ménager, Geneviève de Saint-Basile, Marie-Claude Stolzenberg, Bertrand Roquelaure, Nicolas André, Benoit Florkin, Françoise le Deist, Capucine Picard, Alain Fischer, Frédéric Rieux-Laucat

Blood (2007) 110 (13): 4285–4292.

https://doi.org/10.1182/blood-2007-05-088286

Published: 2007

Includes: Supplemental data

NARROW

Whole Exome Sequencing of Patients with Adult-Onset Evans Syndrome: A Cohort of 80 Patients

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes

Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients

RAS -associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

Onset of Autoimmunity In ALPS as a Consequence of Genetic Defects Accumulation

Human Adenylate Kinase 2 Deficiency Inhibits Hematopoietic Cell Differentiation towards Neutrophil and T Lymphoid Lineages.

FAS-L, IL-10, and double-negative CD4 − CD8 − TCR α/β + T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes

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American Society of Hematology

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American Society of Hematology

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