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Journal Articles

ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

Sarah Elitzur, Ruth Shiloh, Jan L. C. Loeffen, Agata Pastorczak, Masatoshi Takagi, Simon Bomken, Andre Baruchel, Thomas Lehrnbecher, Sarah K. Tasian, Oussama Abla, Nira Arad-Cohen, Itziar Astigarraga, Miriam Ben-Harosh, Nicole Bodmer, Triantafyllia Brozou, Francesco Ceppi, Liliia Chugaeva, Luciano Dalla Pozza, Stephane Ducassou, Gabriele Escherich, Roula Farah, Amber Gibson, Henrik Hasle, Julieta Hoveyan, Elad Jacoby, Janez Jazbec, Stefanie Junk, Alexandra Kolenova, Jelena Lazic, Luca Lo Nigro, Nizar Mahlaoui, Lane Miller, Vassilios Papadakis, Lucie Pecheux, Marta Pillon, Ifat Sarouk, Jan Stary, Eftichia Stiakaki, Marion Strullu, Thai Hoa Tran, Marek Ussowicz, Jaime Verdu-Amoros, Anna Wakulinska, Joanna Zawitkowska, Dominique Stoppa-Lyonnet, A. Malcolm Taylor, Yosef Shiloh, Shai Izraeli, Veronique Minard-Colin, Kjeld Schmiegelow, Ronit Nirel, Andishe Attarbaschi, Arndt Borkhardt

Blood (2024) 144 (11): 1193–1205.

https://doi.org/10.1182/blood.2024024283

Published: 2024

Includes: Supplemental data

Journal Articles

ATM Germline Pathogenic Variants Affect Treatment Outcomes in Children with Acute Lymphoblastic Leukemia/Lymphoma and Ataxia Telangiectasia

Sarah Elitzur, Ruth Shiloh, Jan Loeffen, Agata Pastorczak, Masatoshi Takagi, Simon Bomken, Andre Baruchel, Stephane Ducassou, Nizar Mahlaoui, Marion Strullu, Thomas Lehrnbecher, Kjeld Schmiegelow, Oussama Abla, Liliia Anderzhanova, Nira Arad-Cohen, Itziar Astigarraga, Miriam Ben-Harosh, Francesco Ceppi, Nicole Bodmer, Triantafyllia Brozou, Luciano Dalla-Pozza, Gabriele Escherich, Roula Farah, Amber Gibson, Henrik Hasle, Julieta Hoveyan, Elad Jacoby, Janez Jazbec, Alexandra Kolenova, Jelena Lazic, Luca Lo Nigro, Lane Miller, Vassilios Papadakis, Lucie Pecheux, Marta Pillon, Ifat Sarouk, Jan Stary, Eftichia Stiakaki, Sarah K. Tasian, Thai Hoa Tran, Marek Ussowicz, Jose Jaime Verdu-Amoros, Anna Wakulinska, Joanna Zawitkowska, Dominique Stoppa-Lyonnet, Malcolm Taylor, Yosef Shiloh, Shai Izraeli, Ronit Nirel, Veronique Minard-Colin, Andishe Attarbaschi, Arndt Borkhardt

Blood (2023) 142 (Supplement 1): 520.

https://doi.org/10.1182/blood-2023-179333

Published: 2023

Journal Articles

Allogeneic stem cell transplantation compared to conservative management in adults with inborn errors of immunity

Blood (2023) 141 (1): 60–71.

https://doi.org/10.1182/blood.2022015482

Published: 2023

Includes: Supplemental data

Journal Articles

Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Blood (2022) 140 (14): 1635–1649.

https://doi.org/10.1182/blood.2022015506

Published: 2022

Includes: Supplemental data

Journal Articles

How Many Patients Have Congenital Neutropenia? a Population-Based Estimation from the Nationwide French Severe Chronic Neutropenia Registry

Blood (2020) 136 (Supplement 1): 40–41.

https://doi.org/10.1182/blood-2020-135912

Published: 2020

Journal Articles

Busulfan/Fludarabine- or Treosulfan/Fludarabine-Based Conditioning Regimen in Patients with Wiskott-Aldrich Syndrome Given Allogeneic Hematopoietic Cell Transplantation — an EBMT Inborn Errors Working Party and Scetide Retrospective Analysis

Blood (2018) 132 (Supplement 1): 2175.

https://doi.org/10.1182/blood-2018-99-112394

Published: 2018

Journal Articles

B Cell Reconstitution after Gene Therapy in Patients with Wiskott Aldrich Syndrome and Comparison with Mismatched Allogeneic Hematopoietic Stem Cell Transplantation

Alessandra Magnani, MD PhD, Cécile Roudaut, MSc, Aurelie Gabrion, Laure Caccavelli, PhD, Fabien Touzot, MDPhD, Benedicte Neven, MD PhD, Despina Moshous, MD, Nizar Mahlaoui, Emmanuel Clave, Antoine Toubert, Alain Fischer, MD PhD, Marina Cavazzana, MD PhD

Blood (2015) 126 (23): 3235.

https://doi.org/10.1182/blood.V126.23.3235.3235

Published: 2015

Journal Articles

Lymphoproliferative Disease in Wiskott-Aldrich Syndrome: Analysis of the French National Registry of Primary Immunodeficiencies

Morgane Cheminant, Nizar Mahlaoui, MD MSc, MPH, Danielle Canioni, MD, Celine Desconclois, PD, Olivier Hermine, MD PhD, Marlène Pasquet, MD, Marion Malphettes, MD, Yves Bertrand, Stephane Blanche, MD, Alain Fischer, MD PhD, Felipe Suarez, MD PhD

Blood (2014) 124 (21): 4129.

https://doi.org/10.1182/blood.V124.21.4129.4129

Published: 2014

Journal Articles

Histological Characteristics of Ataxia Telangiectasia Associated Lymphoproliferative Diseases. Results of the French Registry of Primary Immune Deficiencies

Danielle Canioni, MD, Nizar Mahlaoui, MD MSc, MPH, Chantal Andriamanga, MD, Catherine Dubois d'Enghien, Jean-Philippe Jais, MD PhD, Alain Fischer, MD PhD, Olivier Hermine, MD PhD, Nicole Brousse, Dominique Stoppa-Lyonnet, Felipe Suarez, MD PhD

Blood (2014) 124 (21): 1634.

https://doi.org/10.1182/blood.V124.21.1634.1634

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

Chronic Granulomatous Disease In Patients Reaching Adulthood: A Nationwide Retrospective Study Of 80 Cases In France

Blood (2013) 122 (21): 1028.

https://doi.org/10.1182/blood.V122.21.1028.1028

Published: 2013

Journal Articles

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

Nizar Mahlaoui, Isabelle Pellier, Cécile Mignot, Jean-Philippe Jais, Chrystèle Bilhou-Nabéra, Despina Moshous, Bénédicte Neven, Capucine Picard, Geneviève de Saint-Basile, Marina Cavazzana-Calvo, Stéphane Blanche, Alain Fischer

Blood (2013) 121 (9): 1510–1516.

https://doi.org/10.1182/blood-2012-08-448118

Published: 2013

Includes: Supplemental data

Journal Articles

Occurence of Malignancies in Patients with Primary Immunodeficiencies: An Analysis of the French Primary Immunodeficency Registry

Felipe Suarez, MD, PhD, Hugo Chapdelaine, M.D., Laetitia Compain, Nizar Mahlaoui, MD, Chantal Andriamanga, M.D, Alain Fischer, Olivier Hermine, MD, PhD

Blood (2012) 120 (21): 1057.

https://doi.org/10.1182/blood.V120.21.1057.1057

Published: 2012

Journal Articles

Long Term Outcomes of Hematopoietic Stem Cell Transplantation in Patients with Severe Phenotype Hurler Syndrome: an International Multi-Center Study

Mieke Aldenhoven, Maria Escolar, Robert Wynn, MRCP, FRCPath, MD, Ed Wraith, Anne O'Meara, Paul Veys, Nizar Mahlaoui, MD, Michele Poe, Paul Orchard, MD, Joanne Kurtzberg, MD, Jaap J Boelens, MD, PhD

Blood (2012) 120 (21): 1958.

https://doi.org/10.1182/blood.V120.21.1958.1958

Published: 2012

Journal Articles

Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

Blood (2012) 120 (17): 3615–3624.

https://doi.org/10.1182/blood-2011-12-396879

Published: 2012

Includes: Supplemental data

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

Hematopoietic Stem Cell Gene Therapy with Lentiviral Vector in X-Linked Adrenoleukodystrophy

Patrick Aubourg, MD, Salima Hacein-Bey-Abina, PharmD, PhD, Cynthia Bartholomae, PhD, Manfred Schmidt, PhD, Ina Kutschera, PhD, Michel Vidaud, PharmD, PhD, Liliane Dal-Cortivo, MD, PhD, Nizar Mahlaoui, MD, Pierre Frange, MD, Céline Bellesme, MD, Francois Lefrère, MD, Gaelle Dufayet, Alain Fischer, MD/PhD, Christof van Kalle, MD, PhD, Marina Cavazzana-Calvo, MD, PhD, Nathalie Cartier, MD, PhD

Blood (2011) 118 (21): 163.

https://doi.org/10.1182/blood.V118.21.163.163

Published: 2011

Journal Articles

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

Blood (2011) 118 (6): 1675–1684.

https://doi.org/10.1182/blood-2010-11-319376

Published: 2011

Includes: Supplemental data

Journal Articles

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Blood (2011) 117 (5): 1522–1529.

https://doi.org/10.1182/blood-2010-07-298372

Published: 2011

Includes: Supplemental data

Journal Articles

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases

M. Louise Markert, José G. Marques, Bénédicte Neven, Blythe H. Devlin, Elizabeth A. McCarthy, Ivan K. Chinn, Adriana S. Albuquerque, Susana L. Silva, Claudio Pignata, Geneviève de Saint Basile, Rui M. Victorino, Capucine Picard, Marianne Debre, Nizar Mahlaoui, Alain Fischer, Ana E. Sousa

Blood (2011) 117 (2): 688–696.

https://doi.org/10.1182/blood-2010-06-292490

Published: 2011

NARROW

ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

ATM Germline Pathogenic Variants Affect Treatment Outcomes in Children with Acute Lymphoblastic Leukemia/Lymphoma and Ataxia Telangiectasia

Allogeneic stem cell transplantation compared to conservative management in adults with inborn errors of immunity

Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

How Many Patients Have Congenital Neutropenia? a Population-Based Estimation from the Nationwide French Severe Chronic Neutropenia Registry

Busulfan/Fludarabine- or Treosulfan/Fludarabine-Based Conditioning Regimen in Patients with Wiskott-Aldrich Syndrome Given Allogeneic Hematopoietic Cell Transplantation — an EBMT Inborn Errors Working Party and Scetide Retrospective Analysis

B Cell Reconstitution after Gene Therapy in Patients with Wiskott Aldrich Syndrome and Comparison with Mismatched Allogeneic Hematopoietic Stem Cell Transplantation

Lymphoproliferative Disease in Wiskott-Aldrich Syndrome: Analysis of the French National Registry of Primary Immunodeficiencies

Histological Characteristics of Ataxia Telangiectasia Associated Lymphoproliferative Diseases. Results of the French Registry of Primary Immune Deficiencies

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

Chronic Granulomatous Disease In Patients Reaching Adulthood: A Nationwide Retrospective Study Of 80 Cases In France

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

Occurence of Malignancies in Patients with Primary Immunodeficiencies: An Analysis of the French Primary Immunodeficency Registry

Long Term Outcomes of Hematopoietic Stem Cell Transplantation in Patients with Severe Phenotype Hurler Syndrome: an International Multi-Center Study

Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

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

Hematopoietic Stem Cell Gene Therapy with Lentiviral Vector in X-Linked Adrenoleukodystrophy

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases

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American Society of Hematology

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American Society of Hematology

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