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Journal Articles

Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation

Blood (2023) 142 (Supplement 1): 4107.

https://doi.org/10.1182/blood-2023-172795

Published: 2023

Journal Articles

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma

Blood (2020) 136 (9): 1055–1066.

https://doi.org/10.1182/blood.2020005844

Published: 2020

Includes: Supplemental data

Journal Articles

Improved transplant survival and long-term disease outcome in children with MHC class II deficiency

Blood (2020) 135 (12): 954–973.

https://doi.org/10.1182/blood.2019002690

Published: 2020

Includes: Supplemental data

Journal Articles

Two decades of excellent transplant survival for chronic granulomatous disease: a supraregional immunology transplant center report

Su Han Lum, Terence Flood, Sophie Hambleton, Peter McNaughton, Helen Watson, Mario Abinun, Stephen Owens, Nevenka Cigrovski, Andrew Cant, Andrew R. Gennery, Mary Slatter

Blood (2019) 133 (23): 2546–2549.

https://doi.org/10.1182/blood.2019000021

Published: 2019

Includes: Supplemental data

Journal Articles

In vivo T-depleted reduced-intensity transplantation for GATA2 -related immune dysfunction

Eleni Tholouli, Katherine Sturgess, Rachel E. Dickinson, Andrew Gennery, Andrew J. Cant, Graham Jackson, Jim Lordan, Sophie Hambleton, Mary A. Slatter, Venetia Bigley, Matthew Collin

Blood (2018) 131 (12): 1383–1387.

https://doi.org/10.1182/blood-2017-10-811489

Published: 2018

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

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea

Chi A. Ma, Liqiang Xi, Brian Cauff, Adam DeZure, Alexandra F. Freeman, Sophie Hambleton, Gary Kleiner, T. Ronan Leahy, Maureen O’Sullivan, Michelle Makiya, Grainne O’Regan, Stefania Pittaluga, Julie Niemela, Jennifer Stoddard, Sergio D. Rosenzweig, Mark Raffeld, Amy D. Klion, Joshua D. Milner

Blood (2017) 129 (5): 650–653.

https://doi.org/10.1182/blood-2016-09-737817

Published: 2017

Includes: Supplemental data

Journal Articles

When the STATs are against you

Sophie Hambleton

Blood (2016) 127 (25): 3109–3110.

https://doi.org/10.1182/blood-2016-05-715029

Published: 2016

Journal Articles

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Blood (2015) 125 (4): 591–599.

https://doi.org/10.1182/blood-2014-09-602763

Published: 2015

Includes: Supplemental data

Journal Articles

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8 K108E mutation

Sandra Salem, David Langlais, François Lefebvre, Guillaume Bourque, Venetia Bigley, Muzz Haniffa, Jean-Laurent Casanova, David Burk, Albert Berghuis, Karina M. Butler, Timothy Ronan Leahy, Sophie Hambleton, Philippe Gros

Blood (2014) 124 (12): 1894–1904.

https://doi.org/10.1182/blood-2014-04-570879

Published: 2014

Includes: Supplemental data

Journal Articles

Abnormally differentiated CD4 + or CD8 + T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

Blood (2014) 124 (6): 851–860.

https://doi.org/10.1182/blood-2014-03-564286

Published: 2014

Includes: Supplemental data

Journal Articles

The evolution of cellular deficiency in GATA2 mutation

Blood (2014) 123 (6): 863–874.

https://doi.org/10.1182/blood-2013-07-517151

Published: 2014

Includes: Supplemental data

Journal Articles

Reduced Intensity Hematopoietic Stem Cell Transplant Rescues Immune Function and Corrects Pulmonary Alveolar Proteinosis in DCML Deficiency/GATA 2 Mutation

Blood (2011) 118 (21): 2045.

https://doi.org/10.1182/blood.V118.21.2045.2045

Published: 2011

Journal Articles

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

Blood (2011) 118 (10): 2656–2658.

https://doi.org/10.1182/blood-2011-06-360313

Published: 2011

Includes: Supplemental data

Journal Articles

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

Blood (2011) 118 (6): 1675–1684.

https://doi.org/10.1182/blood-2010-11-319376

Published: 2011

Includes: Supplemental data

Journal Articles

Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience

Mary A. Slatter, Kanchan Rao, Persis Amrolia, Terry Flood, Mario Abinun, Sophie Hambleton, Zohreh Nademi, Nick Goulden, Graham Davies, Waseem Qasim, Hubert B. Gaspar, Andrew Cant, Andrew R. Gennery, Paul Veys

Blood (2011) 117 (16): 4367–4375.

https://doi.org/10.1182/blood-2010-10-312082

Published: 2011

Journal Articles

Low-strength T-cell activation promotes Th17 responses

Harriet A. Purvis, Jeroen N. Stoop, Jelena Mann, Steven Woods, Anne E. Kozijn, Sophie Hambleton, John H. Robinson, John D. Isaacs, Amy E. Anderson, Catharien M. U. Hilkens

Blood (2010) 116 (23): 4829–4837.

https://doi.org/10.1182/blood-2010-03-272153

Published: 2010

Includes: Supplemental data

Journal Articles

Drug-Induced, NKG2D-Dependent Sensitization of ALL Cell Lines to NK Recognition.

Laura Spence, MD, Sophie Hambleton, MD, PhD, Venetia Bigley, MD, Sarah Pagan, Matthew Collin, MD, PhD

Blood (2009) 114 (22): 2024.

https://doi.org/10.1182/blood.V114.22.2024.2024

Published: 2009

NARROW

Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma

Improved transplant survival and long-term disease outcome in children with MHC class II deficiency

Two decades of excellent transplant survival for chronic granulomatous disease: a supraregional immunology transplant center report

In vivo T-depleted reduced-intensity transplantation for GATA2 -related immune dysfunction

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

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea

When the STATs are against you

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8 K108E mutation

Abnormally differentiated CD4 + or CD8 + T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

The evolution of cellular deficiency in GATA2 mutation

Reduced Intensity Hematopoietic Stem Cell Transplant Rescues Immune Function and Corrects Pulmonary Alveolar Proteinosis in DCML Deficiency/GATA 2 Mutation

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience

Low-strength T-cell activation promotes Th17 responses

Drug-Induced, NKG2D-Dependent Sensitization of ALL Cell Lines to NK Recognition.

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ASH Publications

American Society of Hematology

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ASH Publications

American Society of Hematology

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