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Journal Articles

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Blood (2022) 139 (16): 2427–2440.

https://doi.org/10.1182/blood.2021010791

Published: 2022

Includes: Supplemental data

Journal Articles

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Blood (2019) 134 (3): 277–290.

https://doi.org/10.1182/blood.2018893404

Published: 2019

Includes: Supplemental data

Journal Articles

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID

Blood (2014) 123 (2): 281–289.

https://doi.org/10.1182/blood-2013-01-476432

Published: 2014

Includes: Supplemental data

Journal Articles

Correction of Artemis Deficiency In Murine Hematopoietic Stem Cell by I-Sce 1 Meganuclease and Artemis Recombination Matrix Mediated Homologous Recombination.

Julie Rivière, Julia Hauer, MD, Laurent Poirot, Julien Brochet, Frédéric Pâques, Jean-Pierre De-Villartay, Alain Fischer, Marina Cavazzana-Calvo, MD, PhD

Blood (2010) 116 (21): 3770.

https://doi.org/10.1182/blood.V116.21.3770.3770

Published: 2010

Journal Articles

Reduced immunoglobulin class switch recombination in the absence of Artemis

Paola Rivera-Munoz, Pauline Soulas-Sprauel, Gwenaël Le Guyader, Vincent Abramowski, Sylvia Bruneau, Alain Fischer, Frédéric Pâques, Jean-Pierre de Villartay

Blood (2009) 114 (17): 3601–3609.

https://doi.org/10.1182/blood-2008-11-188383

Published: 2009

Journal Articles

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

Bénédicte Neven, Sandrine Leroy, Hélène Decaluwe, Francoise Le Deist, Capucine Picard, Despina Moshous, Nizar Mahlaoui, Marianne Debré, Jean-Laurent Casanova, Liliane Dal Cortivo, Yoann Madec, Salima Hacein-Bey-Abina, Geneviève de Saint Basile, Jean-Pierre de Villartay, Stéphane Blanche, Marina Cavazzana-Calvo, Alain Fischer

Blood (2009) 113 (17): 4114–4124.

https://doi.org/10.1182/blood-2008-09-177923

Published: 2009

Includes: Supplemental data

Journal Articles

JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders

Isabelle Plo, Mayuka Nakatake, Laurent Malivert, Jean-Pierre de Villartay, Stéphane Giraudier, Jean-Luc Villeval, Lisa Wiesmuller, William Vainchenker

Blood (2008) 112 (4): 1402–1412.

https://doi.org/10.1182/blood-2008-01-134114

Published: 2008

Journal Articles

Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity

Chantal Lagresle-Peyrou, Frank Yates, Michèle Malassis-Séris, Christophe Hue, Estelle Morillon, Alexandrine Garrigue, Allen Liu, Philippe Hajdari, Daniel Stockholm, Olivier Danos, Brigitte Lemercier, Marie-Lise Gougeon, Frederic Rieux-Laucat, Jean-Pierre de Villartay, Alain Fischer, Marina Cavazzana-Calvo

Blood (2006) 107 (1): 63–72.

https://doi.org/10.1182/blood-2005-05-2032

Published: 2006

Includes: Supplemental data

Journal Articles

Retroviral Gene Therapy of RAG-1-/- Mice: Balance between Efficiency and Toxicity.

Chantal Lagresle-Peyrou, PhD, Frank Yates, PhD, Michele Malassis-Seris, Christophe Hue, Estelle Morillon, Alexandrine Garrigue, Allen Liu, MD, Philippe Hajdari, Daniel Stockholm, PhD, Olivier Danos, PhD, Brigitte Lemercier, Marie-Lize Gougeon, PhD, Frederic Rieux-laucat, PhD, Jean-Pierre de Villartay, PhD, Alain Fischer, PU, PH, Marina Cavazzana-Calvo, PU, PH

Blood (2005) 106 (11): 460.

https://doi.org/10.1182/blood.V106.11.460.460

Published: 2005

Journal Articles

Omenn syndrome: more than a disorder of RAG1 or RAG2 genes

Marina Cavazzana-Calvo, Jean-Pierre de Villartay

Blood (2005) 105 (11): 4156.

https://doi.org/10.1182/blood-2005-03-1166

Published: 2005

Journal Articles

Restoration of B Cell Development after Lentiviral Transduction of CD34+ Hematopoietic Cells from RAG-1 Deficient Patient.

Chantal Lagresle-Peyrou, PhD, Pierre Charneau, PhD, Christophe Hue, Karine Mollier, Isabelle Andre-Schmutz, PhD, Delphine Bonhomme, Salima Hacein-Bey-Abina, harmaD, PhD, Jean-Pierre de Villartay, PhD, Alain Fischer, MD, PhD, Marina Cavazzana-Calvo, MD, PhD

Blood (2004) 104 (11): 5246.

https://doi.org/10.1182/blood.V104.11.5246.5246

Published: 2004

Journal Articles

Gene therapy of RAG-2−/− mice: sustained correction of the immunodeficiency

Frank Yates, Michèle Malassis-Séris, Daniel Stockholm, Cécile Bouneaud, Frédérique Larousserie, Patricia Noguiez-Hellin, Olivier Danos, Donald B. Kohn, Alain Fischer, Jean-Pierre de Villartay, Marina Cavazzana-Calvo

Blood (2002) 100 (12): 3942–3949.

https://doi.org/10.1182/blood-2002-03-0782

Published: 2002

Journal Articles

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B–severe combined immune deficiency or Omenn syndrome

Barbara Corneo, Despina Moshous, Tayfun Güngör, Nicolas Wulffraat, Pierre Philippet, Françoise Le Deist, Alain Fischer, Jean-Pierre de Villartay

Blood (2001) 97 (9): 2772–2776.

https://doi.org/10.1182/blood.V97.9.2772

Published: 2001

Journal Articles

Lymphoproliferative Syndrome With Autoimmunity: A Possible Genetic Basis for Dominant Expression of the Clinical Manifestations

Frédéric Rieux-Laucat, Séverine Blachère, Sylvia Danielan, Jean Pierre De Villartay, Mathias Oleastro, Eric Solary, Brigitte Bader-Meunier, Peter Arkwright, Corinne Pondaré, Françoise Bernaudin, Helen Chapel, Susan Nielsen, Mohamed Berrah, Alain Fischer, Françoise Le Deist

Blood (1999) 94 (8): 2575–2582.

https://doi.org/10.1182/blood.V94.8.2575.420k17_2575_2582

Published: 1999

NARROW

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID

Correction of Artemis Deficiency In Murine Hematopoietic Stem Cell by I-Sce 1 Meganuclease and Artemis Recombination Matrix Mediated Homologous Recombination.

Reduced immunoglobulin class switch recombination in the absence of Artemis

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders

Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity

Retroviral Gene Therapy of RAG-1-/- Mice: Balance between Efficiency and Toxicity.

Omenn syndrome: more than a disorder of RAG1 or RAG2 genes

Restoration of B Cell Development after Lentiviral Transduction of CD34+ Hematopoietic Cells from RAG-1 Deficient Patient.

Gene therapy of RAG-2−/− mice: sustained correction of the immunodeficiency

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B–severe combined immune deficiency or Omenn syndrome

Lymphoproliferative Syndrome With Autoimmunity: A Possible Genetic Basis for Dominant Expression of the Clinical Manifestations

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American Society of Hematology

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American Society of Hematology

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