List of works - Siobhan O Burns

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease

scientific article published on 6 May 2015

A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes

scientific article

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

scientific article published in June 2014

A partial down-regulation of WASP is sufficient to inhibit podosome formation in dendritic cells

scientific article published on 15 December 2005

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

scientific article

Absence of γ-chain in keratinocytes alters chemokine secretion resulting in reduced immune cell recruitment

scientific article

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

scientific article published on 6 October 2015

Activating mutations of N-WASP alter Shigella pathogenesis

scientific article published on 18 April 2009

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review

scientific article published on 08 August 2014

B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.

scientific article published in February 2012

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

scientific article published on 23 December 2016

Bleeding and splenectomy in Wiskott-Aldrich syndrome: A single-centre experience

scientific article published on 23 July 2018

British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders. ⬇️

scientific article published on 25 March 2017

Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy

scientific article

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

scientific article published on 09 April 2020

Clinical and laboratory features of seventy-eight UK patients with Good’s syndrome (thymoma and hypogammaglobulinaemia)

scientific article published on 21 October 2018

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

scientific article published on 16 July 2016

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

scientific article published on 30 October 2015

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

scientific article (publication date: 15 August 2001)

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

scientific article published on 10 October 2017

Cytoskeletal remodeling mediated by WASp in dendritic cells is necessary for normal immune synapse formation and T-cell priming

scientific article published on 20 June 2011

Deletion of Wiskott-Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells

scientific article published on 18 July 2016

Dendritic cells: the bare bones of immunity

scientific article

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

scientific article published on 16 March 2018

Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration

scientific article

Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cells

scientific article

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency

scientific article published on 20 December 2019

Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult

scientific article published on 17 July 2017

Genetic variants associated with neutrophil function in aggressive periodontitis and healthy controls

scientific article published in April 2010

How I manage patients with Wiskott Aldrich syndrome

scientific article published on 12 March 2019

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

scientific article published on 3 February 2017

Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.

scientific article

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

scientific article published on 27 March 2014

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

scientific article

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

scientific article published on 02 August 2007

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

scientific article

Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom

scientific article

Inherited p40phox deficiency differs from classic chronic granulomatous disease

scientific article published on 06 August 2018

Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia?

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

scientific article published on 14 September 2012

Lentivectors are efficient tools to manipulate the dendritic cell cytoskeleton

scientific article published on 29 July 2011

Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I.

scientific article published on 08 April 2016

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans ⬇️

scientific article published on 22 February 2018

Maturation of DC is associated with changes in motile characteristics and adherence

scientific article published on 01 February 2004

Mechanisms of WASp-mediated hematologic and immunologic disease.

scientific article published on 12 August 2004

Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging

scientific article

Mutagenesis in Norovirus in Response to Favipiravir Treatment

scientific article published on 01 November 2018

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

scientific article

Paediatric hereditary angioedema: a survey of UK service provision and patient experience

scientific article published in December 2014

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

scientific article published in 2022

Phosphorylation of WASp is a key regulator of activity and stability in vivo

scientific article published on September 2009

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. ⬇️

scientific article published on 22 February 2018

Primary immunodeficiencies due to abnormalities of the actin cytoskeleton

scientific article

Recent advances in the understanding of genetic defects of neutrophil number and function

scientific article published on 31 August 2010

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype

article

Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.

scientific article

Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia

scientific article published on 02 November 2012

Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity

scientific article published on 3 January 2018

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

scientific article published on 26 December 2017

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

scientific article

The leukocyte podosome

scientific article

Transmission of Hepatitis B Core Antibody and Galactomannan Enzyme Immunoassay Positivity via Immunoglobulin Products: A Comprehensive Analysis.

scientific article

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

scientific article published on 27 June 2006

WASP: a key immunological multitasker

scientific article

WIP regulates the stability and localization of WASP to podosomes in migrating dendritic cells

scientific article published on December 2006

Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation

scientific article published on 22 July 2009

Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells

scientific article

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

scientific article published on 5 August 2016

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

scientific article

List of works by Siobhan O Burns

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease

A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

A partial down-regulation of WASP is sufficient to inhibit podosome formation in dendritic cells

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

Absence of γ-chain in keratinocytes alters chemokine secretion resulting in reduced immune cell recruitment

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

Activating mutations of N-WASP alter Shigella pathogenesis

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review

B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Bleeding and splenectomy in Wiskott-Aldrich syndrome: A single-centre experience

British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders. ⬇️

Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Clinical and laboratory features of seventy-eight UK patients with Good’s syndrome (thymoma and hypogammaglobulinaemia)

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

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

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

Cytoskeletal remodeling mediated by WASp in dendritic cells is necessary for normal immune synapse formation and T-cell priming

Deletion of Wiskott-Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells

Dendritic cells: the bare bones of immunity

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration

Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cells

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency

Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult

Genetic variants associated with neutrophil function in aggressive periodontitis and healthy controls

How I manage patients with Wiskott Aldrich syndrome

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

Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

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

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom

Inherited p40phox deficiency differs from classic chronic granulomatous disease

Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia?

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Lentivectors are efficient tools to manipulate the dendritic cell cytoskeleton

Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans ⬇️

Maturation of DC is associated with changes in motile characteristics and adherence

Mechanisms of WASp-mediated hematologic and immunologic disease.

Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging

Mutagenesis in Norovirus in Response to Favipiravir Treatment

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

Paediatric hereditary angioedema: a survey of UK service provision and patient experience

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

Phosphorylation of WASp is a key regulator of activity and stability in vivo

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. ⬇️

Primary immunodeficiencies due to abnormalities of the actin cytoskeleton

Recent advances in the understanding of genetic defects of neutrophil number and function

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype

Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.

Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia

Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity

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

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

The leukocyte podosome

Transmission of Hepatitis B Core Antibody and Galactomannan Enzyme Immunoassay Positivity via Immunoglobulin Products: A Comprehensive Analysis.

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

WASP: a key immunological multitasker

WIP regulates the stability and localization of WASP to podosomes in migrating dendritic cells

Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation

Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

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