List of works - Sophie Hambleton

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

scientific article published on 16 August 2017

1H, 13C, and 15N resonance assignments of human Notch-1 calcium binding EGF domains 11-13.

scientific article published in July 2004

A new case of Fas-associated death domain protein deficiency and update on treatment outcomes ⬇️

scientific article published on 17 March 2015

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

scientific article published on 16 April 2012

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

scientific article

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

scientific article

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

scientific article published on 3 June 2014

Allogeneic hematopoietic stem cell transplantation for severe, refractory juvenile idiopathic arthritis

scientific article published on 01 April 2018

An essential role for the Zn2+ transporter ZIP7 in B cell development

scientific article published on 04 February 2019

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

scientific article

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation ⬇️

scientific article published on 8 November 2017

Biliary cirrhosis in a child with inherited interleukin-12 deficiency

scientific article published on 19 January 2008

Bone and joint infections in children.

scientific article published in January 2004

Chickenpox party or varicella vaccine?

scientific article

Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.

scientific article published on 20 August 2016

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

scientific article published on 22 January 2016

Delayed induction of type I and III interferons mediates nasal epithelial cell permissiveness to SARS-CoV-2

scientific article published on 07 December 2021

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome

scientific article published on 02 May 2019

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

scientific article published on 20 August 2018

Dual proteolytic pathways govern glycolysis and immune competence

scientific article

Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20).

scientific article

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

scientific article

Early-onset stroke and vasculopathy associated with mutations in ADA2

scientific article

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

scientific article published on 3 March 2016

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

scientific article

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

scientific journal article

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

scientific article published on 29 March 2021

Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation.

scientific article published on 25 October 2014

Haploidentical CD3 TCRαβ and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease.

scientific article

Haploidentical hematopoietic stem cell transplantation can lead to viral clearance in severe combined immunodeficiency

scientific article published in June 2013

Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.

scientific article published on 12 November 2016

Hematopoietic stem cell transplantation for CTLA4 deficiency

article

Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency

scientific article published on 08 June 2018

Host genetic factors in susceptibility to mycobacterial disease.

scientific article

Human IFNAR2 deficiency: Lessons for antiviral immunity

scientific journal article

Human dendritic cell deficiency: the missing ID?

scientific article published on 19 August 2011

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

scientific article published on 30 April 2019

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

scientific article published on 28 August 2018

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

scientific article

IRF8 mutations and human dendritic-cell immunodeficiency

scientific article

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

scientific article

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

scientific article published on 3 February 2017

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ

scientific article published on 09 May 2019

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

scientific article published on 2 January 2018

Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes

scientific article published on 03 December 2018

Life-threatening pulmonary interstitial lung disease complicating pediatric nonhumoral immunodeficiencies

scientific article published on 03 April 2019

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

scientific article published on 20 April 2022

Localization of the delta-like-1-binding site in human Notch-1 and its modulation by calcium affinity

scientific article published on 22 February 2008

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

scientific article

Low-dose serotherapy improves early immune reconstitution after cord blood transplantation for primary immunodeficiencies

scientific article published on 10 November 2013

Low-strength T-cell activation promotes Th17 responses.

scientific article

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

scientific article

New graft manipulation strategies improve the outcome of mismatched stem cell transplantation in children with primary immunodeficiencies

scientific article published on 04 February 2019

Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience

scientific article published on 07 March 2018

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib

scientific article published on 11 September 2019

PEPtalk2: results of a pilot randomised controlled trial to compare VZIG and aciclovir as postexposure prophylaxis (PEP) against chickenpox in children with cancer.

scientific article

PEPtalk: postexposure prophylaxis against varicella in children with cancer.

scientific article published on 28 June 2011

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

scientific article published on 04 May 2018

Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain–deficient severe combined immunodeficiency ⬇️

scientific article published on November 20, 2010

Preventing varicella in children with malignancies: what is the evidence? ⬇️

scientific article published on June 1, 2011

Preventing varicella-zoster disease

scientific article

Prevention of varicella and zoster by live attenuated VZV vaccine

scientific article

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

scientific article published on 30 May 2017

Risk of herpes zoster in adults immunized with varicella vaccine

scientific article published in March 2008

STAT2 deficiency and susceptibility to viral illness in humans

scientific journal article

Sensitizing primary acute lymphoblastic leukemia to natural killer cell recognition by induction of NKG2D ligands

scientific article

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

scientific article published on 12 July 2013

Serum amyloid A induces interleukin-6 in dermal fibroblasts via Toll-like receptor 2, interleukin-1 receptor-associated kinase 4 and nuclear factor-κB.

scientific article published on November 2014

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

scientific article published on 01 December 2019

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

scientific journal article

Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain

scientific article published on 08 September 2018

Single-cell multi-omics analysis of the immune response in COVID-19

scientific article published on 20 April 2021

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

scientific article published on 12 December 2016

Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe

scientific article published on 8 February 2015

T-cell receptor αβ+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency.

scientific article published on 2 August 2017

The cellular immune response to COVID-19 deciphered by single cell multi-omics across three UK centres

scientific article published on 15 January 2021

The evolution of cellular deficiency in GATA2 mutation

scientific article published on 17 December 2013

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency ⬇️

scientific article published on 17 January 2011

The impact of varicella vaccination in the United States

scientific article

Toll-like receptor-mediated, enhanced production of profibrotic TIMP-1 in monocytes from patients with systemic sclerosis: role of serum factors.

scientific article published on 6 December 2012

Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience.

scientific article published on 16 November 2017

Troublesome Thai travels

scientific article

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

scientific article published on 05 April 2019

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

scientific article published on 11 July 2016

Varicella zoster virus immunity: A primer.

scientific article published on 25 April 2015

Varicella zoster virus infection.

scientific article published on 02 July 2015

When the STATs are against you.

scientific article

Whole-exome-sequencing-based discovery of human FADD deficiency

scientific article

Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells

scientific article published on 21 January 2013

List of works by Sophie Hambleton

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

1H, 13C, and 15N resonance assignments of human Notch-1 calcium binding EGF domains 11-13.

A new case of Fas-associated death domain protein deficiency and update on treatment outcomes ⬇️

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

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

Allogeneic hematopoietic stem cell transplantation for severe, refractory juvenile idiopathic arthritis

An essential role for the Zn2+ transporter ZIP7 in B cell development

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation ⬇️

Biliary cirrhosis in a child with inherited interleukin-12 deficiency

Bone and joint infections in children.

Chickenpox party or varicella vaccine?

Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Delayed induction of type I and III interferons mediates nasal epithelial cell permissiveness to SARS-CoV-2

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

Dual proteolytic pathways govern glycolysis and immune competence

Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20).

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

Early-onset stroke and vasculopathy associated with mutations in ADA2

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

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

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

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation.

Haploidentical CD3 TCRαβ and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease.

Haploidentical hematopoietic stem cell transplantation can lead to viral clearance in severe combined immunodeficiency

Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.

Hematopoietic stem cell transplantation for CTLA4 deficiency

Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency

Host genetic factors in susceptibility to mycobacterial disease.

Human IFNAR2 deficiency: Lessons for antiviral immunity

Human dendritic cell deficiency: the missing ID?

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

IRF8 mutations and human dendritic-cell immunodeficiency

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

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

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ

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

Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes

Life-threatening pulmonary interstitial lung disease complicating pediatric nonhumoral immunodeficiencies

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

Localization of the delta-like-1-binding site in human Notch-1 and its modulation by calcium affinity

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

Low-dose serotherapy improves early immune reconstitution after cord blood transplantation for primary immunodeficiencies

Low-strength T-cell activation promotes Th17 responses.

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

New graft manipulation strategies improve the outcome of mismatched stem cell transplantation in children with primary immunodeficiencies

Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib

PEPtalk2: results of a pilot randomised controlled trial to compare VZIG and aciclovir as postexposure prophylaxis (PEP) against chickenpox in children with cancer.

PEPtalk: postexposure prophylaxis against varicella in children with cancer.

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain–deficient severe combined immunodeficiency ⬇️

Preventing varicella in children with malignancies: what is the evidence? ⬇️

Preventing varicella-zoster disease

Prevention of varicella and zoster by live attenuated VZV vaccine

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

Risk of herpes zoster in adults immunized with varicella vaccine

STAT2 deficiency and susceptibility to viral illness in humans

Sensitizing primary acute lymphoblastic leukemia to natural killer cell recognition by induction of NKG2D ligands

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

Serum amyloid A induces interleukin-6 in dermal fibroblasts via Toll-like receptor 2, interleukin-1 receptor-associated kinase 4 and nuclear factor-κB.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain

Single-cell multi-omics analysis of the immune response in COVID-19

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

Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe

T-cell receptor αβ+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency.

The cellular immune response to COVID-19 deciphered by single cell multi-omics across three UK centres

The evolution of cellular deficiency in GATA2 mutation

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency ⬇️

The impact of varicella vaccination in the United States