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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

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome

Blood (2024) 144 (1): 35–45.

https://doi.org/10.1182/blood.2023022658

Published: 2024

Includes: Supplemental data

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

Clinical and functional spectrum of RAC2-related immunodeficiency

Blood (2024) 143 (15): 1476–1487.

https://doi.org/10.1182/blood.2023022098

Published: 2024

Includes: Supplemental data

Journal Articles

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

Blood (2023) 141 (9): 971–983.

https://doi.org/10.1182/blood.2022018546

Published: 2023

Includes: Supplemental data

Journal Articles

Interim Analysis of Safety and Hematological Parameters of an Ongoing Long-Term Open-Label Extension Study of Investigational PI3Kδ Inhibitor Leniolisib for Patients with Activated PI3K Delta Syndrome (APDS) through December 2021

V. Koneti Rao, Sharon Webster, Anna Sediva, Alessandro Plebani, Catharina Schuetz, Anna Shcherbina, Virgil A.S.H. Dalm, Antonino Trizzino, Yulia Zharankova, Elaine Kulm, Alanvin Orpia, Lavenda Chirombo Kluczynski, Julia Körholz, Vassilios Lougaris, Yulia Rodina, Klaus Kucher, Kath Radford, Jason Bradt, Gulbu Uzel

Blood (2022) 140 (Supplement 1): 1643–1645.

https://doi.org/10.1182/blood-2022-160334

Published: 2022

Journal Articles

Global Phase 3, Randomized, Placebo-Controlled Trial with Open-Label Extension Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients with WHIM Syndrome (4WHIM): Trial Design and Enrollment

Blood (2021) 138 (Supplement 1): 4310.

https://doi.org/10.1182/blood-2021-153346

Published: 2021

Journal Articles

Nicotinamide (NA) Treatment Improves Response to G-CSF in Severe Congenital Neutropenia (SCN) Patients

Ekaterina Deordieva, Julia Skokowa, MDPhD, Anna Shcherbina, Galina Novichkova, MD, Alexey Maschan, MD, Karl Welte

Blood (2020) 136 (Supplement 1): 38.

https://doi.org/10.1182/blood-2020-142289

Published: 2020

Journal Articles

Mismatched related vs matched unrelated donors in TCRαβ/CD19-depleted HSCT for primary immunodeficiencies

Alexandra Laberko, Elvira Sultanova, Elena Gutovskaya, Irina Shipitsina, Larisa Shelikhova, Elena Kurnikova, Yakov Muzalevskii, Alexei Kazachenok, Dmitriy Pershin, Kirill Voronin, Anna Shcherbina, Michael Maschan, Alexey Maschan, Dmitry Balashov

Blood (2019) 134 (20): 1755–1763.

https://doi.org/10.1182/blood.2019001757

Published: 2019

Includes: Supplemental data

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

WASP and N-WASP in human platelets differ in sensitivity to protease calpain

Anna Shcherbina, Hiroaki Miki, Dianne M. Kenney, Fred S. Rosen, Tadaomi Takenawa, Eileen Remold-O'Donnell

Blood (2001) 98 (10): 2988–2991.

https://doi.org/10.1182/blood.V98.10.2988

Published: 2001

Journal Articles

Role of Caspase in a Subset of Human Platelet Activation Responses

Anna Shcherbina, Eileen Remold-O’Donnell

Blood (1999) 93 (12): 4222–4231.

https://doi.org/10.1182/blood.V93.12.4222

Published: 1999

Journal Articles

Dynamic Association of Moesin With the Membrane Skeleton of Thrombin-Activated Platelets

Anna Shcherbina, Dianne M. Kenney, Anthony Bretscher, Eileen Remold-O’Donnell

Blood (1999) 93 (6): 2128–2129.

https://doi.org/10.1182/blood.V93.6.2128.406a41a_2128_2129

Published: 1999

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

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome

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

Clinical and functional spectrum of RAC2-related immunodeficiency

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

Interim Analysis of Safety and Hematological Parameters of an Ongoing Long-Term Open-Label Extension Study of Investigational PI3Kδ Inhibitor Leniolisib for Patients with Activated PI3K Delta Syndrome (APDS) through December 2021

Global Phase 3, Randomized, Placebo-Controlled Trial with Open-Label Extension Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients with WHIM Syndrome (4WHIM): Trial Design and Enrollment

Nicotinamide (NA) Treatment Improves Response to G-CSF in Severe Congenital Neutropenia (SCN) Patients

Mismatched related vs matched unrelated donors in TCRαβ/CD19-depleted HSCT for primary immunodeficiencies

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

WASP and N-WASP in human platelets differ in sensitivity to protease calpain

Role of Caspase in a Subset of Human Platelet Activation Responses

Dynamic Association of Moesin With the Membrane Skeleton of Thrombin-Activated Platelets

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American Society of Hematology

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American Society of Hematology

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