about
Impaired neutrophil migration and phagocytosis in IRAK-4 deficiencyConfiguration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiationThe leukocyte podosomeA congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes.Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration.A robust model for read count data in exome sequencing experiments and implications for copy number variant callingX-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.WASP: a key immunological multitasker.Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cellsMechanisms of WASp-mediated hematologic and immunologic disease.B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.Dendritic cells: the bare bones of immunity.Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.Absence of γ-chain in keratinocytes alters chemokine secretion resulting in reduced immune cell recruitment.Deletion of Wiskott-Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells.Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I.Phosphorylation of WASp is a key regulator of activity and stability in vivo.Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activationLRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort studyRecent advances in the understanding of genetic defects of neutrophil number and function.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.Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.Primary immunodeficiencies due to abnormalities of the actin cytoskeleton.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.Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.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.X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.Transmission of Hepatitis B Core Antibody and Galactomannan Enzyme Immunoassay Positivity via Immunoglobulin Products: A Comprehensive Analysis.The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.Activating mutations of N-WASP alter Shigella pathogenesis.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 ContenCommon variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.WIP regulates the stability and localization of WASP to podosomes in migrating dendritic cells.Genetic variants associated with neutrophil function in aggressive periodontitis and healthy controls.Paediatric hereditary angioedema: a survey of UK service provision and patient experience.
P50
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P50
description
researcher ORCID ID = 0000-0002-3356-9506
@en
wetenschapper
@nl
name
Siobhan O Burns
@ast
Siobhan O Burns
@en
Siobhan O Burns
@es
Siobhan O Burns
@nl
type
label
Siobhan O Burns
@ast
Siobhan O Burns
@en
Siobhan O Burns
@es
Siobhan O Burns
@nl
prefLabel
Siobhan O Burns
@ast
Siobhan O Burns
@en
Siobhan O Burns
@es
Siobhan O Burns
@nl
P1153
8778070100
P21
P31
P496
0000-0002-3356-9506