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Journal Articles

Biallelic Deleterious Germline SH2B3 Variants Cause a Novel Clinical Syndrome of Myeloproliferation and Multi-Organ Autoimmunity

Piers Blombery, Vahid Pazhakh, Adriana Albuquerque, Jesmeen Maimaris, Lingge Tu, Brenda Briones, Florence Evans, Ella Thompson, Ben Carpenter, Julie Curtin, Jonathan Lambert, Siobhan Burns, Graham John Lieschke

Blood (2022) 140 (Supplement 1): 992–993.

https://doi.org/10.1182/blood-2022-163097

Published: 2022

Journal Articles

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Sujal Ghosh, Sevgi Köstel Bal, Emily S. J. Edwards, Bethany Pillay, Raúl Jiménez Heredia, Funda Erol Cipe, Geetha Rao, Elisabeth Salzer, Samaneh Zoghi, Hassan Abolhassani, Tooba Momen, Emma Gostick, David A. Price, Yu Zhang, Andrew J. Oler, Claudia Gonzaga-Jauregui, Baran Erman, Ayse Metin, Inci Ilhan, Sule Haskologlu, Candan Islamoglu, Kubra Baskin, Serdar Ceylaner, Ebru Yilmaz, Ekrem Unal, Musa Karakukcu, Dagmar Berghuis, Theresa Cole, Aditya K. Gupta, Fabian Hauck, Hubert Kogler, Andy I. M. Hoepelman, Safa Baris, Elif Karakoc-Aydiner, Ahmet Ozen, Leo Kager, Dirk Holzinger, Michael Paulussen, Renate Krüger, Roland Meisel, Prasad T. Oommen, Emma Morris, Benedicte Neven, Austen Worth, Joris van Montfrans, Pieter L. A. Fraaij, Sharon Choo, Figen Dogu, E. Graham Davies, Siobhan Burns, Gregor Dückers, Ruy Perez Becker, Horst von Bernuth, Sylvain Latour, Maura Faraci, Marco Gattorno, Helen C. Su, Qiang Pan-Hammarström, Lennart Hammarström, Michael J. Lenardo, Cindy S. Ma, Tim Niehues, Asghar Aghamohammadi, Nima Rezaei, Aydan Ikinciogullari, Stuart G. Tangye, Arjan C. Lankester, Kaan Boztug

Blood (2020) 136 (23): 2638–2655.

https://doi.org/10.1182/blood.2020006738

Published: 2020

Includes: Supplemental data

Journal Articles

Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency

Blood (2018) 131 (8): 917–931.

https://doi.org/10.1182/blood-2017-09-807487

Published: 2018

Journal Articles

Successful Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adults with Inherited Primary Immunodeficiency (PID)

Emma C Morris, MD PhD, Thomas Andrew Fox, MRCP, Siobhan Burns, MD PhD, Ben Carpenter, MD, Kirsty J Thomson, MD, David Lowe, MD PhD, Adele K. Fielding, MB BS, PhD FRCP, FRCPath, Karl S Peggs, MD, Panagiotis Kottaridis, FRCPath, PhD MSc, Victoria Grandage, FRCPath, MRCP, PhD, Shari Denovan, RN, Sarah Grace, RN, Julia Dahlstrom, RN, Sarita Workman, RN, Andrew Symes, RN, Stephen Mackinnon, MD, Ronjon Chakraverty, BMBS, PhD, Rachael Hough, MD BMBS, FRCP, FRCPath

Blood (2016) 128 (22): 4681.

https://doi.org/10.1182/blood.V128.22.4681.4681

Published: 2016

Journal Articles

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

Blood (2010) 115 (16): 3231–3238.

https://doi.org/10.1182/blood-2009-09-239087

Published: 2010

Includes: Supplemental data

Journal Articles

Clinical Phenotype and Long Term Outcome in a Large Cohort of X-Linked Thrombocytopenia (XLT)/Mild Wiskott-Aldrich-Syndrome Patients

Blood (2008) 112 (11): 90.

https://doi.org/10.1182/blood.V112.11.90.90

Published: 2008

Journal Articles

Impaired T-cell priming in vivo resulting from dysfunction of WASp-deficient dendritic cells

Gerben Bouma, Siobhan Burns, Adrian J. Thrasher

Blood (2007) 110 (13): 4278–4284.

https://doi.org/10.1182/blood-2007-06-096875

Published: 2007

Includes: Multimedia, Supplemental data

Journal Articles

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia

Phil J. Ancliff, Michael P. Blundell, Giles O. Cory, Yolanda Calle, Austen Worth, Helena Kempski, Siobhan Burns, Gareth E. Jones, Jo Sinclair, Christine Kinnon, Ian M. Hann, Rosemary E. Gale, David C. Linch, Adrian J. Thrasher

Blood (2006) 108 (7): 2182–2189.

https://doi.org/10.1182/blood-2006-01-010249

Published: 2006

Includes: Multimedia, Supplemental data

Journal Articles

Mechanisms of WASp-mediated hematologic and immunologic disease

Siobhan Burns, Giles O. Cory, William Vainchenker, Adrian J. Thrasher

Blood (2004) 104 (12): 3454–3462.

https://doi.org/10.1182/blood-2004-04-1678

Published: 2004

Journal Articles

Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation

Siobhan Burns, Adrian J. Thrasher, Michael P. Blundell, Laura Machesky, Gareth E. Jones

Blood (2001) 98 (4): 1142–1149.

https://doi.org/10.1182/blood.V98.4.1142

Published: 2001

NARROW

Biallelic Deleterious Germline SH2B3 Variants Cause a Novel Clinical Syndrome of Myeloproliferation and Multi-Organ Autoimmunity

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency

Successful Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adults with Inherited Primary Immunodeficiency (PID)

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

Clinical Phenotype and Long Term Outcome in a Large Cohort of X-Linked Thrombocytopenia (XLT)/Mild Wiskott-Aldrich-Syndrome Patients

Impaired T-cell priming in vivo resulting from dysfunction of WASp-deficient dendritic cells

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia

Mechanisms of WASp-mediated hematologic and immunologic disease

Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation

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American Society of Hematology

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ASH Publications

American Society of Hematology

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