Primary immunodeficiencies caused by mutations in actin regulatory proteins

Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity

(2018) Laurène Pfajfer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Cortactin stabilization of actin requires actin-binding repeats and linker, is disrupted by specific substitutions, and is independent of nucleotide state

(2018) Alexander N Scherer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Overview of the Cytoskeleton from an Evolutionary Perspective

(2018) Thomas D. Pollard et al.   Cold Spring Harbor Perspectives in Biology

WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis

(2018) Amlan Biswas et al.   Nature Communications

The Lack of WIP Binding to Actin Results in Impaired B Cell Migration and Altered Humoral Immune Responses

(2018) Selina Jessica Keppler et al.   Cell Reports

Sailing to and Docking at the Immune Synapse: Role of Tubulin Dynamics and Molecular Motors

(2018) Noa Beatriz Martín-Cófreces et al.   Frontiers in Immunology

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

(2018) Gabrielle Bradshaw et al.   Frontiers in Immunology

Hematopoietic stem cell transplantation corrects WIP deficiency

(2017) Hamoud Al-Mousa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

(2017) Taco W. Kuijpers et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The myocardin-related transcription factor MKL co-regulates the cellular levels of two profilin isoforms

(2017) Marion Joy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DOCK8 Deficiency Presenting as an IPEX-Like Disorder

(2017) Fayhan J. Alroqi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

DOCK2 Deficiency in a Patient with Hyper IgM Phenotype

(2017) Zahra Alizadeh et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation inARPC1B

(2017) Raz Somech et al.   JOURNAL OF IMMUNOLOGY

The Diverse Family of Arp2/3 Complexes

(2017) Javier Pizarro-Cerdá et al.   TRENDS IN CELL BIOLOGY

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

(2017) Walter H. A. Kahr et al.   Nature Communications

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

(2016) D. B. Kuhns et al.   BLOOD

Abnormalities of follicular helper T-cell number and function in Wiskott-Aldrich syndrome

(2016) X. Zhang et al.   BLOOD

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

(2016) Christina S. Yee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin ( MSN ) gene

(2016) Chantal Lagresle-Peyrou et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T H 17 cell differentiation

(2016) Sevgi Keles et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Integrin-mediated mechanotransduction

(2016) Zhiqi Sun et al.   JOURNAL OF CELL BIOLOGY

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

(2016) Tarana Singh Dang et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton

(2016) Erin Janssen et al.   JOURNAL OF CLINICAL INVESTIGATION

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory geneWDR1

(2016) Ariane S.I. Standing et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DOCK2 confers immunity and intestinal colonization resistance to Citrobacter rodentium infection

(2016) Zhiping Liu et al.   Scientific Reports

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

(2015) J. Record et al.   BLOOD

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

(2015) Sevil Oskay Halacli et al.   CLINICAL IMMUNOLOGY

Architecture Dependence of Actin Filament Network Disassembly

(2015) Laurène Gressin et al.   CURRENT BIOLOGY

Wiskott-Aldrich Syndrome Interacting Protein Deficiency Uncovers the Role of the Co-receptor CD19 as a Generic Hub for PI3 Kinase Signaling in B Cells

(2015) Selina Jessica Keppler et al.   IMMUNITY

Delayed control of herpes simplex virus infection and impaired CD4+ T-cell migration to the skin in mouse models of DOCK8 deficiency

(2015) Inge E A Flesch et al.   IMMUNOLOGY AND CELL BIOLOGY

Outcomes Following Gene Therapy in Patients With Severe Wiskott-Aldrich Syndrome

(2015) Salima Hacein-Bey Abina et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

(2015) Elena Crestani et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

(2015) Omar K. Alkhairy et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

(2015) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Coronin-1A: Immune Deficiency in Humans and Mice

(2015) Divya Punwani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

(2015) Susanne E. Aydin et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β

(2015) Man Lyang Kim et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Isoform diversity in the Arp2/3 complex determines actin filament dynamics

(2015) Jasmine V. G. Abella et al.   NATURE CELL BIOLOGY

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

(2015) Kerry Dobbs et al.   NEW ENGLAND JOURNAL OF MEDICINE

Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation

(2015) Da-Wei Liu et al.   PEDIATRIC BLOOD & CANCER

Effects of Wiskott-Aldrich Syndrome Protein Deficiency on IL-10-Producing Regulatory B Cells in Humans and Mice

(2015) H.-Q. Du et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Filamin A interacts with the coactivator MKL1 to promote the activity of the transcription factor SRF and cell migration

(2015) Philipp Kircher et al.   Science Signaling

Actin foci facilitate activation of the phospholipase C-γ in primary T lymphocytes via the WASP pathway

(2015) Sudha Kumari et al.   eLife

Filamin A interacts with the coactivator MKL1 to promote the activity of the transcription factor SRF and cell migration

(2015) Philipp Kircher et al.   Science Signaling

Molecular mechanisms and functional implications of polarized actin remodeling at the T cell immunological synapse

(2014) Audrey Le Floc’h et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency

(2014) Daifulah Al-Zahrani et al.   CLINICAL IMMUNOLOGY

Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients

(2014) Sonia Caracciolo et al.   CLINICAL IMMUNOLOGY

Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis

(2014) Erin Janssen et al.   CLINICAL IMMUNOLOGY

Dedicator of cytokinesis 8–deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells

(2014) Erin Janssen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Plasmacytoid dendritic cell depletion in DOCK8 deficiency: Rescue of severe herpetic infections with IFN-α 2b therapy

(2014) Sevgi Keles et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

(2014) Asbjorg Stray-Pedersen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity

(2014) Qian Zhang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mst1/Mst2 Regulate Development and Function of Regulatory T Cells through Modulation of Foxo1/Foxo3 Stability in Autoimmune Disease

(2014) X. Du et al.   JOURNAL OF IMMUNOLOGY

Essential Role of Elmo1 in Dock2-Dependent Lymphocyte Migration

(2014) C. Stevenson et al.   JOURNAL OF IMMUNOLOGY

WIP: more than a WASp-interacting protein

(2014) Sophia Fried et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Binding of WIP to Actin Is Essential for T Cell Actin Cytoskeleton Integrity and Tissue Homing

(2014) M. J. Massaad et al.   MOLECULAR AND CELLULAR BIOLOGY

Triple-Color FRET Analysis Reveals Conformational Changes in the WIP-WASp Actin-Regulating Complex

(2014) S. Fried et al.   Science Signaling

Gene Therapy for Wiskott-Aldrich Syndrome--Long-Term Efficacy and Genotoxicity

(2014) C. J. Braun et al.   Science Translational Medicine

DOCK8 regulates protective immunity by controlling the function and survival of RORγt+ ILCs

(2014) Akhilesh K. Singh et al.   Nature Communications

The Rac activator DOCK2 regulates natural killer cell-mediated cytotoxicity in mice through the lytic synapse formation

(2013) Y. Sakai et al.   BLOOD

Control of actin filament dynamics at barbed ends by WH2 domains: From capping to permissive and processive assembly

(2013) Marie-France Carlier et al.   Cytoskeleton

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency

(2013) Melissa C. Mizesko et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

(2013) Despina Moshous et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome

(2013) Karen L. Simon et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Wiskott–Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

(2013) Maria Carmina Castiello et al.   JOURNAL OF AUTOIMMUNITY

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

(2013) Francesca Prete et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Dedicator of Cytokinesis 8 Interacts with Talin and Wiskott-Aldrich Syndrome Protein To Regulate NK Cell Cytotoxicity

(2013) H. Ham et al.   JOURNAL OF IMMUNOLOGY

Actin cytoskeleton control of the comings and goings of T lymphocytes

(2013) F. Lafouresse et al.   TISSUE ANTIGENS

Cdc42 regulates neutrophil migration via crosstalk between WASp, CD11b, and microtubules

(2012) S. Kumar et al.   BLOOD

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

(2012) M. Recher et al.   BLOOD

DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses

(2012) Y. Harada et al.   BLOOD

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

(2012) Waleed Al-Herz et al.   CLINICAL IMMUNOLOGY

Interactions of Isolated C-terminal Fragments of Neural Wiskott-Aldrich Syndrome Protein (N-WASP) with Actin and Arp2/3 Complex

(2012) Jean-François Gaucher et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

(2012) Gaetana Lanzi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The Mst1 and Mst2 kinases control activation of rho family GTPases and thymic egress of mature thymocytes

(2012) Fan Mou et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Trafficking defects in WASH-knockout fibroblasts originate from collapsed endosomal and lysosomal networks

(2012) Timothy S. Gomez et al.   MOLECULAR BIOLOGY OF THE CELL

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

(2012) Haifa H Jabara et al.   NATURE IMMUNOLOGY

Dimerization of DOCK2 Is Essential for DOCK2-Mediated Rac Activation and Lymphocyte Migration

(2012) Masao Terasawa et al.   PLoS One

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

(2012) Amandine Crequer et al.   PLoS One

Structural basis for mutual relief of the Rac guanine nucleotide exchange factor DOCK2 and its partner ELMO1 from their autoinhibited forms

(2012) K. Hanawa-Suetsugu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autoimmunity in Wiskott–Aldrich Syndrome: An Unsolved Enigma

(2012) Marco Catucci et al.   Frontiers in Immunology

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

(2011) G. Bouma et al.   BLOOD

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

(2011) N. T. Nehme et al.   BLOOD

Life at the Leading Edge

(2011) Anne J. Ridley   CELL

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening

(2011) Majed Dasouki et al.   CLINICAL IMMUNOLOGY

DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory

(2011) Teresa Lambe et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Chemokine triggered integrin activation and actin remodeling events guiding lymphocyte migration across vascular barriers

(2011) Ronen Alon et al.   EXPERIMENTAL CELL RESEARCH

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding

(2011) Michel J. Massaad et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Coronin 1A is an essential regulator of the TGFβ receptor/SMAD3 signaling pathway in Th17 CD4+ T cells

(2011) Sandra Kaminski et al.   JOURNAL OF AUTOIMMUNITY

Multiple Factors Confer Specific Cdc42 and Rac Protein Activation by Dedicator of Cytokinesis (DOCK) Nucleotide Exchange Factors

(2011) Kiran Kulkarni et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity

(2011) Shirly Becker-Herman et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

(2011) Katrina L. Randall et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Coronin 1-Mediated Naive T Cell Survival Is Essential for the Development of Autoimmune Encephalomyelitis

(2011) K. Siegmund et al.   JOURNAL OF IMMUNOLOGY

The 'ins' and 'outs' of podosomes and invadopodia: characteristics, formation and function

(2011) Danielle A. Murphy et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The cortactin-binding domain of WIP is essential for podosome formation and extracellular matrix degradation by murine dendritic cells

(2010) Inmaculada Bañón-Rodríguez et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia

(2010) Deborah Accetta et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Structural Basis of Membrane Targeting by the Dock180 Family of Rho Family Guanine Exchange Factors (Rho-GEFs)

(2010) Lakshmanane Premkumar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Selective control of type I IFN induction by the Rac activator DOCK2 during TLR-mediated plasmacytoid dendritic cell activation

(2010) Kazuhito Gotoh et al.   JOURNAL OF EXPERIMENTAL MEDICINE

WASP Family Proteins: Their Evolution and Its Physiological Implications

(2010) Douwe M. Veltman et al.   MOLECULAR BIOLOGY OF THE CELL

Organizing the cell cortex: the role of ERM proteins

(2010) Richard G. Fehon et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Stem-Cell Gene Therapy for the Wiskott–Aldrich Syndrome

(2010) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nuclear Role of WASp in the Pathogenesis of Dysregulated TH1 Immunity in Human Wiskott-Aldrich Syndrome

(2010) M. D. Taylor et al.   Science Translational Medicine

Proteolytic interstitial cell migration: a five-step process

(2009) Peter Friedl et al.   CANCER AND METASTASIS REVIEWS

Mst1 controls lymphocyte trafficking and interstitial motility within lymph nodes

(2009) Koko Katagiri et al.   EMBO JOURNAL

Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome

(2009) Shadi Al Khatib et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

(2009) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production

(2009) Katrina L Randall et al.   NATURE IMMUNOLOGY

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sequential Regulation of DOCK2 Dynamics by Two Phospholipids During Neutrophil Chemotaxis

(2009) A. Nishikimi et al.   SCIENCE

Activation of Rho GTPases by DOCK Exchange Factors Is Mediated by a Nucleotide Sensor

(2009) J. Yang et al.   SCIENCE

Critical roles of actin-interacting protein 1 in cytokinesis and chemotactic migration of mammalian cells

(2008) Asuka Kato et al.   BIOCHEMICAL JOURNAL

WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function

(2008) L. S. Westerberg et al.   BLOOD

Differential requirement for DOCK2 in migration of plasmacytoid dendritic cells versus myeloid dendritic cells

(2008) K. Gotoh et al.   BLOOD

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion

(2008) Lawrence R. Shiow et al.   CLINICAL IMMUNOLOGY

MOBKL1A/MOBKL1B Phosphorylation by MST1 and MST2 Inhibits Cell Proliferation

(2008) Maria Praskova et al.   CURRENT BIOLOGY

A new role for cortactin in invadopodia: Regulation of protease secretion

(2008) E CLARK et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

The Lupus-Related Lmb3 Locus Contains a Disease-Suppressing Coronin-1A Gene Mutation

(2008) M. Katarina Haraldsson et al.   IMMUNITY

Mutations of the Wiskott–Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes

(2008) Hans D. Ochs   IMMUNOLOGIC RESEARCH

Primary immune deficiencies with aberrant IgE production

(2008) Esra Ozcan et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Actin disassembly by cofilin, coronin, and Aip1 occurs in bursts and is inhibited by barbed-end cappers

(2008) Hao Yuan Kueh et al.   JOURNAL OF CELL BIOLOGY

The actin regulator coronin 1A is mutant in a thymic egress–deficient mouse strain and in a patient with severe combined immunodeficiency

(2008) Lawrence R Shiow et al.   NATURE IMMUNOLOGY