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Journal Articles

A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations

Blood blood.2023022576.

https://doi.org/10.1182/blood.2023022576

Published: 2024

Includes: Supplemental data

Journal Articles

Autosomal Recessive COPZ1 Mutations Cause Isolated Severe Neutropenia or Complex Syndrome with Severe Neutropenia

Blood (2024) 144 (Supplement 1): 417.

https://doi.org/10.1182/blood-2024-199069

Published: 2024

Journal Articles

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Tanja C. Vallée, Jannik S. Glasmacher, Hannes Buchner, Peter D. Arkwright, Uta Behrends, Anastasia Bondarenko, Michael J. Browning, David Buchbinder, Alessandro Cattoni, Liudmyla Chernyshova, Peter Ciznar, Theresa Cole, Wojciech Czogała, Gregor Dueckers, John David M. Edgar, Fatih Erbey, Anders Fasth, Francesca Ferrua, Renata Formankova, Eleonora Gambineri, Andrew R. Gennery, Frederick D. Goldman, Luis I. Gonzalez-Granado, Carsten Heilmann, Tarja Heiskanen-Kosma, Hanna Juntti, Leena Kainulainen, Hirokazu Kanegane, Neslihan E. Karaca, Sara S. Kilic, Christoph Klein, Sylwia Kołtan, Irina Kondratenko, Isabelle Meyts, Gulnara M. Nasrullayeva, Lucia D. Notarangelo, Srdjan Pasic, Isabelle Pellier, Claudio Pignata, Siraj Misbah, Ansgar Schulz, Gesmar R. Segundo, Anna Shcherbina, Mary Slatter, Robert Sokolic, Pere Soler-Palacin, Polina Stepensky, Joris M. van Montfrans, Samppa Ryhänen, Beata Wolska-Kuśnierz, John B. Ziegler, Xiaodong Zhao, Alessandro Aiuti, Hans D. Ochs, Michael H. Albert

Blood (2024) 143 (24): 2504–2516.

https://doi.org/10.1182/blood.2023021411

Published: 2024

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

Impact and Dynamics of TP53 Mutated Clones in Shwachman Diamond Syndrome in a Series of 80 Patients

Jean-Alain Martignoles, Pierre Hirsch, MD PhD, Blandine Beaupain, Thomas Longval, MD, Nawa Hachem, MsC, Mira El-Khoury, PhD, Sophie Kaltenbach, Jean Soulier, MDPhD, Thierry Leblanc, MD, Pierre Simon Rohrlich, MDPhD, Eric Jeziorski, MDPhD, Isabelle Meyts, Dalila Adjaoud, MD, Vincent Barlogis, MD, PhD, Marlène Pasquet, MD, PhD, Laetitia Largeaud, Flore Sicre de Fontbrune, Claire Fieschi, MD PhD, Virginie Gandemer, MD PhD, Nathalie Aladjidi, MD, Fanny Fouyssac, MD, Guy Leverger, MD, Wadih Abou Chahla, MD, Stephane Blanche, MD, Despina Moushous, MD PhD, Aline Moignet Autrel, MD, Yves Bertrand, MD, Cecile Renard, Pascale Flandrin-Gresta, MD, Jean Louis Stephan, MDPhD, Olivier Tournilhac, MD PhD, Liana Carausu, Frederic Millot, MD, Marielaure Couec, MD, Claude Preudhomme, MD PhD, Hélène Lapillonne, MD PhD, Vahid Asnafi, MD PhD, Patrick Revy, Christine Bellanne-Chantelot, PhD PharmD, Francois Delhommeau, MD PhD, Jean Donadieu, MDPhD

Blood (2020) 136 (Supplement 1): 22–23.

https://doi.org/10.1182/blood-2020-138540

Published: 2020

Journal Articles

Deficiency of Adenosine Deaminase 2 (DADA2) Presenting As Familial Hodgkin Lymphoma

Fahad Alabbas, Omar Alsharief, Isabelle Meyts, Fatma Albatniji, Michael Hershfield, Adnan Mansoor, MD PhD, Ghaleb Elyamany, MD PhD

Blood (2018) 132 (Supplement 1): 5373.

https://doi.org/10.1182/blood-2018-99-116431

Published: 2018

Journal Articles

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2

Blood (2017) 130 (24): 2682–2688.

https://doi.org/10.1182/blood-2017-07-798660

Published: 2017

Journal Articles

Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Jannik S Glasmacher, Tanja C Bittner, MD, Hans D Ochs, MD, Alessandro Aiuti, MD PhD, Peter D Arkwright, MD, Dmitry Balashov, Uta Behrends, Bernd H. Belohradsky, MD, Elisa Bertoni, David K. Buchbinder, MD MSHS, Michael Browning, Anastasiia Bondarenko, Fabio Candotti, MD, Alessandro Cattoni, Liudmyla Chernyshova, Joseph H. Chewning, MD, Peter Ciznar, Theresa Cole, Beatriz T Costa-Carvalho, Wojciech Czogala, Gregor Dueckers, David M Edgar, Fatih Erbey, Anders Fasth, MD PhD, Renata Formankova, MD PhD, Tomas Freiberger, Eleonora Gambineri, Andrew Gennery, MD, Frederick D Goldman, MD, Luis I Gonzalez-Granado, Tiago N Gulmaraes, David Hagin, MD PhD, Fabian Hauck, MD PhD, Tarja Heiskanen-Kosma, Manfred Hoenig, MD, Hanna Juntti, Hirokazu Kanegane, Leena Kainulainen, Neslihan E Karaca, Sara S Kilic, Christoph Klein, MD PhD, Sylwia Koltan, Irina Kondratenko, Dawei Liu, MD, Susanne Matthes, MD, Juliana T L Mazzucchelli, Isabelle Meyts, Siraj Misbah, Zohreh Nademi, Gulnara Nasrullayeva, Lucia D Notarangelo, Pere Soler-Palacin, Olga Pashchenko, Srdjan Pasic, Isabelle Pellier, MD, Claudio Pignata, Camilla Roepstorff, Catharina Schuetz, Ansgar S Schulz, MD PhD Prof., Gesmar R S Segundo, Anna Shcherbina, Joanne Smart, Robert A. Sokolic, MD, Polina Stepensky, MD, Troy Torgerson, MD PhD, Svetlana Vakhlyarskaya, Joris van Montfrans, MD PhD, Kim Vettenranta, MD PD, Beata Wolska-Kusnierz, Xiaodong Zhao, John B Ziegler, Xuan Zhang, Michael H. Albert, MD

Blood (2016) 128 (22): 366.

https://doi.org/10.1182/blood.V128.22.366.366

Published: 2016

Journal Articles

Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicenter experience

Blood (2016) 128 (3): 440–448.

https://doi.org/10.1182/blood-2016-03-704015

Published: 2016

Journal Articles

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Blood (2016) 127 (25): 3154–3164.

https://doi.org/10.1182/blood-2015-11-679902

Published: 2016

Includes: Supplemental data

Journal Articles

IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

Paul J. Maglione, Noa Simchoni, Samuel Black, Lin Radigan, Jessica R. Overbey, Emilia Bagiella, James B. Bussel, Xavier Bossuyt, Jean-Laurent Casanova, Isabelle Meyts, Andrea Cerutti, Capucine Picard, Charlotte Cunningham-Rundles

Blood (2014) 124 (24): 3561–3571.

https://doi.org/10.1182/blood-2014-07-587824

Published: 2014

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

Characterization of proposed human B-1 cells reveals pre-plasmablast phenotype

Kris Covens, Bert Verbinnen, Nick Geukens, Isabelle Meyts, Frans Schuit, Leentje Van Lommel, Marc Jacquemin, Xavier Bossuyt

Blood (2013) 121 (26): 5176–5183.

https://doi.org/10.1182/blood-2012-12-471953

Published: 2013

Journal Articles

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Blood (2011) 117 (1): 53–62.

https://doi.org/10.1182/blood-2010-06-284935

Published: 2011

Includes: Supplemental data

NARROW

A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations

Autosomal Recessive COPZ1 Mutations Cause Isolated Severe Neutropenia or Complex Syndrome with Severe Neutropenia

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

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

Impact and Dynamics of TP53 Mutated Clones in Shwachman Diamond Syndrome in a Series of 80 Patients

Deficiency of Adenosine Deaminase 2 (DADA2) Presenting As Familial Hodgkin Lymphoma

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2

Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicenter experience

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

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

Characterization of proposed human B-1 cells reveals pre-plasmablast phenotype

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

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American Society of Hematology

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ASH Publications

American Society of Hematology

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