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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

Clonal hematopoiesis is not significantly associated with COVID-19 disease severity

Blood (2022) 140 (14): 1650–1655.

https://doi.org/10.1182/blood.2022015721

Published: 2022

Includes: Supplemental data

Journal Articles

Abatacept is useful in autoimmune cytopenia with immunopathologic manifestations caused by CTLA-4 defects

Blood (2022) 139 (2): 300–304.

https://doi.org/10.1182/blood.2021013496

Published: 2022

Journal Articles

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma

Blood (2020) 136 (9): 1055–1066.

https://doi.org/10.1182/blood.2020005844

Published: 2020

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

Generation of Functional Regulatory T Cells By FOXP3 Gene Transfer into CD4 T Cells from Scurfy Mice and IPEX Patients

Marianne Delville, MD, Emmanuelle Six, PhD, Florence Bellier, Nelly Sigrist, David Zemmour, PhD, Marie-André Bessard, MD, Fabienne Mazerolles, PhD, David Gross, PhD, Axel Schambach, MD PhD, Frederic Rieux-Laucat, PhD, Christoph Benoist, MD PhD, Isabelle Andre-Schmutz, Marina Cavazzana, MD PhD

Blood (2016) 128 (22): 2526.

https://doi.org/10.1182/blood.V128.22.2526.2526

Published: 2016

Journal Articles

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Anne Rensing-Ehl, Ulrich Pannicke, Stefanie-Yvonne Zimmermann, Myriam Ricarda Lorenz, Benedicte Neven, Ilka Fuchs, Ulrich Salzer, Carsten Speckmann, Anne Strauss, Eberhard Maaβ, Benedicte Collet, Anselm Enders, Remi Favier, Marie Christine Alessi, Frederic Rieux-Laucat, Barbara Zieger, Klaus Schwarz, Stephan Ehl

Blood (2015) 126 (16): 1967–1969.

https://doi.org/10.1182/blood-2015-06-654145

Published: 2015

Journal Articles

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

Danai Bem, Holly Smith, Blerida Banushi, Jemima J. Burden, Ian J. White, Joanna Hanley, Nadia Jeremiah, Frédéric Rieux-Laucat, Ruth Bettels, Gema Ariceta, Andrew D. Mumford, Steven G. Thomas, Steve P. Watson, Paul Gissen

Blood (2015) 126 (2): 133–143.

https://doi.org/10.1182/blood-2014-12-614677

Published: 2015

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

Live and let die at TEMRA

Frédéric Rieux-Laucat

Blood (2014) 124 (6): 828–830.

https://doi.org/10.1182/blood-2014-06-581637

Published: 2014

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 Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

Blood (2013) 122 (23): 3713–3722.

https://doi.org/10.1182/blood-2013-06-508267

Published: 2013

Includes: Supplemental data

Journal Articles

A Mendelian Predisposition to B Cell Lymphoma Caused by IL-10R2 Deficiency

Blood (2012) 120 (21): 5092.

https://doi.org/10.1182/blood.V120.21.5092.5092

Published: 2012

Journal Articles

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

Nadine T. Nehme, Jana Pachlopnik Schmid, Franck Debeurme, Isabelle André-Schmutz, Annick Lim, Patrick Nitschke, Frédéric Rieux-Laucat, Patrick Lutz, Capucine Picard, Nizar Mahlaoui, Alain Fischer, Geneviève de Saint Basile

Blood (2012) 119 (15): 3458–3468.

https://doi.org/10.1182/blood-2011-09-378364

Published: 2012

Includes: Supplemental data

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

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

Joao B. Oliveira, Jack J. Bleesing, Umberto Dianzani, Thomas A. Fleisher, Elaine S. Jaffe, Michael J. Lenardo, Frederic Rieux-Laucat, Richard M. Siegel, Helen C. Su, David T. Teachey, V. Koneti Rao

Blood (2010) 116 (14): e35–e40.

https://doi.org/10.1182/blood-2010-04-280347

Published: 2010

Includes: Supplemental data

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

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

Clonal hematopoiesis is not significantly associated with COVID-19 disease severity

Abatacept is useful in autoimmune cytopenia with immunopathologic manifestations caused by CTLA-4 defects

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma

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

Generation of Functional Regulatory T Cells By FOXP3 Gene Transfer into CD4 T Cells from Scurfy Mice and IPEX Patients

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

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

Live and let die at TEMRA

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

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

A Mendelian Predisposition to B Cell Lymphoma Caused by IL-10R2 Deficiency

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

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

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

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

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American Society of Hematology

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ASH Publications

American Society of Hematology

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