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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

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

Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations

Blood (2017) 129 (11): 1458–1468.

https://doi.org/10.1182/blood-2016-10-745174

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

SWI/SNF Protein SMARCD2 Orchestrates Transcriptional Networks Controlling Hematopoiesis and Neutrophil Granulocytes in Humans, Mice and Zebrafish

Blood (2016) 128 (22): 2.

https://doi.org/10.1182/blood.V128.22.2.2

Published: 2016

Journal Articles

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome

Blood (2016) 128 (2): 227–238.

https://doi.org/10.1182/blood-2015-11-685024

Published: 2016

Includes: Supplemental data

Journal Articles

IL-21 signalling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablasts

Blood (2013) 122 (24): 3940–3950.

https://doi.org/10.1182/blood-2013-06-506865

Published: 2013

Journal Articles

DOCK8 is critical for the survival and function of NKT cells

Greg Crawford, Anselm Enders, Uzi Gileadi, Sanda Stankovic, Qian Zhang, Teresa Lambe, Tanya L. Crockford, Helen E. Lockstone, Alexandra Freeman, Peter D. Arkwright, Joanne M. Smart, Cindy S. Ma, Stuart G. Tangye, Christopher C. Goodnow, Vincenzo Cerundolo, Dale I. Godfrey, Helen C. Su, Katrina L. Randall, Richard J. Cornall

Blood (2013) 122 (12): 2052–2061.

https://doi.org/10.1182/blood-2013-02-482331

Published: 2013

Includes: Supplemental data

Journal Articles

IgM + IgD + CD27 + B cells are markedly reduced in IRAK-4–, MyD88-, and TIRAP- but not UNC-93B–deficient patients

Blood (2012) 120 (25): 4992–5001.

https://doi.org/10.1182/blood-2012-07-440776

Published: 2012

Includes: Supplemental data

Journal Articles

Functional STAT3 deficiency compromises the generation of human T follicular helper cells

Blood (2012) 119 (17): 3997–4008.

https://doi.org/10.1182/blood-2011-11-392985

Published: 2012

Includes: Supplemental data

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

Journal Articles

Impaired Epstein-Barr virus–specific CD8 + T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family–positive B-cell targets

Andrew D. Hislop, Umaimainthan Palendira, Alison M. Leese, Peter D. Arkwright, Pierre S. Rohrlich, Stuart G. Tangye, H. Bobby Gaspar, Arjan C. Lankester, Alessandro Moretta, Alan B. Rickinson

Blood (2010) 116 (17): 3249–3257.

https://doi.org/10.1182/blood-2009-09-238832

Published: 2010

Includes: Supplemental data

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

Journal Articles

Haptoglobin is synthesized during granulocyte differentiation, stored in specific granules, and released by neutrophils in response to activation

Kim Theilgaard-Mönch, Lars C. Jacobsen, Marianne J. Nielsen, Thomas Rasmussen, Lene Udby, Maged Gharib, Peter D. Arkwright, Adrian F. Gombart, Jero Calafat, Søren K. Moestrup, Bo T. Porse, Niels Borregaard

Blood (2006) 108 (1): 353–361.

https://doi.org/10.1182/blood-2005-09-3890

Published: 2006

Journal Articles

Success of Adoptive Immunotherapy Followed by Stem Cell Transplantation in the Management of Epstein Barr Virus (EBV)-Driven Primary Central Nervous System Lymphoma (PCNSL) in Immunodeficient Child.

Maged I. Gharib, MD, MRCP, MRCPath, Tanzina Haque, MB.BS, PhD, MRCPath, James A. Nicholson, MB.BS, MRCP, Gwen Wilkie, BSc., Marie Morton-Jones, BSc, Trevor F. Carr, PhD, Peter D. Arkwright, MB, D. Phil, Andrew J.L. Turner, MB.ChB, FRCPath, Anna M. Kelsey, FRCPath, Dorothy H. Crawford, MD, PhD, DSc, Robert F. Wynn, MD, MRCP, MRCPath

Blood (2004) 104 (11): 3115.

https://doi.org/10.1182/blood.V104.11.3115.3115

Published: 2004

Journal Articles

SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease

Reza Sharifi, Joanna C. Sinclair, Kimberly C. Gilmour, Peter D. Arkwright, Christine Kinnon, Adrian J. Thrasher, H. Bobby Gaspar

Blood (2004) 103 (10): 3821–3827.

https://doi.org/10.1182/blood-2003-09-3359

Published: 2004

Journal Articles

Autoimmunity in human primary immunodeficiency diseases

Peter D. Arkwright, Mario Abinun, Andrew J. Cant

Blood (2002) 99 (8): 2694–2702.

https://doi.org/10.1182/blood.V99.8.2694

Published: 2002

Journal Articles

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

Blood (2001) 97 (1): 81–88.

https://doi.org/10.1182/blood.V97.1.81

Published: 2001

NARROW

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

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations

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

SWI/SNF Protein SMARCD2 Orchestrates Transcriptional Networks Controlling Hematopoiesis and Neutrophil Granulocytes in Humans, Mice and Zebrafish

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome

IL-21 signalling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablasts

DOCK8 is critical for the survival and function of NKT cells

IgM + IgD + CD27 + B cells are markedly reduced in IRAK-4–, MyD88-, and TIRAP- but not UNC-93B–deficient patients

Functional STAT3 deficiency compromises the generation of human T follicular helper cells

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

Impaired Epstein-Barr virus–specific CD8 + T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family–positive B-cell targets

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

Haptoglobin is synthesized during granulocyte differentiation, stored in specific granules, and released by neutrophils in response to activation

Success of Adoptive Immunotherapy Followed by Stem Cell Transplantation in the Management of Epstein Barr Virus (EBV)-Driven Primary Central Nervous System Lymphoma (PCNSL) in Immunodeficient Child.

SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease

Autoimmunity in human primary immunodeficiency diseases

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

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American Society of Hematology

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ASH Publications

American Society of Hematology

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