Deciphering actin remodelling in immune cells through the prism of actin-related inborn errors of immunity.

[1]  W. Baumeister,et al.  Elasticity of podosome actin networks produces nanonewton protrusive forces , 2022, Nature Communications.

[2]  E. Macintyre,et al.  Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott–Aldrich syndrome , 2022, Nature medicine.

[3]  I. de Vries,et al.  WASp triggers mechanosensitive actin patches to facilitate immune cell migration in dense tissues , 2021, Developmental cell.

[4]  L. Dupré,et al.  Molecular Tuning of Actin Dynamics in Leukocyte Migration as Revealed by Immune-Related Actinopathies , 2021, Frontiers in Immunology.

[5]  J. J. Conesa,et al.  Structural analysis of receptors and actin polarity in platelet protrusions , 2021, Proceedings of the National Academy of Sciences.

[6]  H. Moreau,et al.  The WASp L272P gain‐of‐function mutation alters dendritic cell coordination of actin dynamics for migration and adhesion , 2021, Journal of leukocyte biology.

[7]  Jörg Menche,et al.  Morphological profiling of human T and NK lymphocytes by high-content cell imaging. , 2021, Cell reports.

[8]  L. Dupré,et al.  Actin Dynamics at the T Cell Synapse as Revealed by Immune-Related Actinopathies , 2021, Frontiers in Cell and Developmental Biology.

[9]  Jörg Menche,et al.  BioProfiling.jl: profiling biological perturbations with high-content imaging in single cells and heterogeneous populations , 2021, bioRxiv.

[10]  T. Kuijpers,et al.  Defective Neutrophil Transendothelial Migration and Lateral Motility in ARPC1B Deficiency Under Flow Conditions , 2021, Frontiers in Immunology.

[11]  E. Hoppenreijs,et al.  Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity , 2021, The Journal of allergy and clinical immunology.

[12]  K. Siminovitch,et al.  WAVE2 suppresses mTOR activation to maintain T cell homeostasis and prevent autoimmunity , 2021, Science.

[13]  Kristy Lee,et al.  Next-generation sequencing for inborn errors of immunity. , 2021, Human immunology.

[14]  R. Geffers,et al.  Loss of Hem1 disrupts macrophage function and impacts migration, phagocytosis, and integrin-mediated adhesion , 2021, Current Biology.

[15]  V. Pietiäinen,et al.  Loss of DIAPH1 causes SCBMS, combined immunodeficiency and mitochondrial dysfunction. , 2021, The Journal of allergy and clinical immunology.

[16]  J. Delon,et al.  RHO GTPases: from new partners to complex immune syndromes , 2021, Nature Reviews Immunology.

[17]  K. Rottner,et al.  Dendritic cell actin dynamics control contact duration and priming efficiency at the immunological synapse , 2021, The Journal of cell biology.

[18]  T. Tapiainen,et al.  RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis. , 2021, Blood.

[19]  C. Reis e Sousa,et al.  Dendritic Cells Revisited. , 2021, Annual review of immunology.

[20]  R. Papa,et al.  Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation , 2021, Frontiers in Immunology.

[21]  D. Mosser,et al.  Macrophages and the maintenance of homeostasis , 2020, Cellular & Molecular Immunology.

[22]  T. Kuijpers,et al.  When Actin is Not Actin’ Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders , 2020, Journal of Innate Immunity.

[23]  M. Konantz,et al.  NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation , 2020, The Journal of experimental medicine.

[24]  H. de la Salle,et al.  Megakaryocytes use in vivo podosome‐like structures working collectively to penetrate the endothelial barrier of bone marrow sinusoids , 2020, Journal of thrombosis and haemostasis : JTH.

[25]  Jörg Menche,et al.  The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity , 2020, Science Immunology.

[26]  Andrew J. Oler,et al.  HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease , 2020, Science.

[27]  M. van der Burg,et al.  EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children , 2020, Frontiers in Immunology.

[28]  C. Hess,et al.  Wiskott Aldrich syndrome protein regulates non-selective autophagy and mitochondrial homeostasis in human myeloid cells , 2020, bioRxiv.

[29]  Jörg Menche,et al.  Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation. , 2020, Haematologica.

[30]  J. Casanova,et al.  Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification , 2020, Journal of Clinical Immunology.

[31]  J. Casanova,et al.  Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee , 2020, Journal of Clinical Immunology.

[32]  T. Kuijpers,et al.  Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity , 2019, The Journal of clinical investigation.

[33]  Ivan K. Chinn,et al.  A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function , 2019, The Journal of experimental medicine.

[34]  M. Redd,et al.  Coronin 1A depletion restores the nuclear stability and viability of Aip1/Wdr1-deficient neutrophils , 2019, The Journal of cell biology.

[35]  J. Orange,et al.  Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis , 2019, Nature Communications.

[36]  Ivan K. Chinn,et al.  A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. , 2019, The Journal of allergy and clinical immunology.

[37]  T. Molina,et al.  Loss of ARHGEF1 causes a human primary antibody deficiency , 2019, The Journal of clinical investigation.

[38]  G. Altan-Bonnet,et al.  Cytokine-mediated communication: a quantitative appraisal of immune complexity , 2019, Nature Reviews Immunology.

[39]  R. Geha,et al.  Primary immunodeficiencies caused by mutations in actin regulatory proteins , 2018, Immunological reviews.

[40]  J. Casanova,et al.  T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency. , 2018, Blood.

[41]  V. Yakubenko,et al.  Distinct Migratory Properties of M1, M2, and Resident Macrophages Are Regulated by αDβ2 and αMβ2 Integrin-Mediated Adhesion , 2018, Front. Immunol..

[42]  M. van der Burg,et al.  Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity , 2018, The Journal of allergy and clinical immunology.

[43]  D. Horn,et al.  Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia , 2018, Nature Communications.

[44]  L. Notarangelo,et al.  Autonomous role of Wiskott‐Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation , 2018, The Journal of allergy and clinical immunology.

[45]  Minghui He,et al.  Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive , 2018, The Journal of clinical investigation.

[46]  M. Netea,et al.  Innate immune memory: An evolutionary perspective , 2018, Immunological reviews.

[47]  M. Boes,et al.  Proline‐serine‐threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells , 2018, The Journal of allergy and clinical immunology.

[48]  Javier Rey-Barroso,et al.  The Wiskott-Aldrich Syndrome Protein Contributes to the Assembly of the LFA-1 Nanocluster Belt at the Lytic Synapse. , 2018, Cell reports.

[49]  T. Svitkina The Actin Cytoskeleton and Actin-Based Motility. , 2018, Cold Spring Harbor perspectives in biology.

[50]  M. Alifano,et al.  Ex Vivo Imaging of Resident CD8 T Lymphocytes in Human Lung Tumor Slices Using Confocal Microscopy , 2017, Journal of visualized experiments : JoVE.

[51]  I. Barshack,et al.  Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B , 2017, The Journal of Immunology.

[52]  K. Devriendt,et al.  ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder , 2017, American journal of human genetics.

[53]  Javier Rey-Barroso,et al.  WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly. , 2017, Blood.

[54]  K. Rottner,et al.  Actin assembly mechanisms at a glance , 2017, Journal of Cell Science.

[55]  J. Ting,et al.  Arp2/3 Complex Is Required for Macrophage Integrin Functions but Is Dispensable for FcR Phagocytosis and In Vivo Motility. , 2017, Developmental cell.

[56]  R. Ramirez-Solis,et al.  Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency. , 2017, The Journal of allergy and clinical immunology.

[57]  N. Warner,et al.  Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease , 2017, Nature Communications.

[58]  J. Puchalka,et al.  A human immunodeficiency syndrome caused by mutations in CARMIL2 , 2017, Nature Communications.

[59]  N. Klein,et al.  Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1 , 2017, The Journal of experimental medicine.

[60]  S. Burns,et al.  Primary immunodeficiencies due to abnormalities of the actin cytoskeleton , 2017, Current opinion in hematology.

[61]  F. Rieux-Laucat,et al.  X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. , 2016, The Journal of allergy and clinical immunology.

[62]  Vanessa A Mackley,et al.  Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency. , 2016, Blood.

[63]  K. Bennett,et al.  RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics , 2016, Nature Immunology.

[64]  K. Rottner,et al.  Diversified actin protrusions promote environmental exploration but are dispensable for locomotion of leukocytes , 2016, Nature Cell Biology.

[65]  Xavier Bossuyt,et al.  Exome and genome sequencing for inborn errors of immunity. , 2016, The Journal of allergy and clinical immunology.

[66]  J. Orange,et al.  IL-2 in the tumor microenvironment is necessary for Wiskott-Aldrich syndrome protein deficient NK cells to respond to tumors in vivo , 2016, Scientific Reports.

[67]  A. Gautreau,et al.  Actin nucleation at the centrosome controls lymphocyte polarity , 2016, Nature Communications.

[68]  T. Pollard Actin and Actin-Binding Proteins. , 2016, Cold Spring Harbor perspectives in biology.

[69]  T. Stradal,et al.  Perinuclear Arp2/3-driven actin polymerization enables nuclear deformation to facilitate cell migration through complex environments , 2016, Nature Communications.

[70]  Toshiro K. Ohsumi,et al.  Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. , 2016, The Journal of allergy and clinical immunology.

[71]  Matthieu Piel,et al.  Innate control of actin nucleation determines two distinct migration behaviours in dendritic cells , 2015, Nature Cell Biology.

[72]  G. Charras,et al.  WASp-dependent actin cytoskeleton stability at the dendritic cell immunological synapse is required for extensive, functional T cell contacts , 2015, Journal of leukocyte biology.

[73]  R. Kosaki,et al.  Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay , 2015, American journal of medical genetics. Part A.

[74]  G. Charras,et al.  Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. , 2015, Blood.

[75]  O. Bénichou,et al.  Cell migration and antigen capture are antagonistic processes coupled by myosin II in dendritic cells , 2015, Nature Communications.

[76]  Toshiro K. Ohsumi,et al.  Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. , 2015, The New England journal of medicine.

[77]  J. Orange,et al.  Insights into primary immune deficiency from quantitative microscopy. , 2015, The Journal of allergy and clinical immunology.

[78]  Natalie S. Poulter,et al.  Platelet actin nodules are podosome-like structures dependent on Wiskott–Aldrich syndrome protein and ARP2/3 complex , 2015, Nature Communications.

[79]  D. Irvine,et al.  Actin foci facilitate activation of the phospholipase C-γ in primary T lymphocytes via the WASP pathway , 2015, eLife.

[80]  Scott N. Mueller,et al.  DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity , 2014, The Journal of experimental medicine.

[81]  G. Superti-Furga,et al.  Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity , 2014, Nature Communications.

[82]  Michael Loran Dustin The Immunological Synapse , 2014, Cancer Immunology Research.

[83]  J. Casanova,et al.  Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies , 2014, The Journal of experimental medicine.

[84]  F. Luscinskas,et al.  Binding of WIP to Actin Is Essential for T Cell Actin Cytoskeleton Integrity and Tissue Homing , 2014, Molecular and Cellular Biology.

[85]  F. Granucci,et al.  Wiskott–Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity , 2014, European journal of immunology.

[86]  T. Mayadas,et al.  The multifaceted functions of neutrophils. , 2014, Annual review of pathology.

[87]  Laurent Blanchoin,et al.  Actin dynamics, architecture, and mechanics in cell motility. , 2014, Physiological reviews.

[88]  Luca Biasco,et al.  Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome , 2013, Science.

[89]  S. Watson,et al.  Megakaryocytes assemble podosomes that degrade matrix and protrude through basement membrane. , 2013, Blood.

[90]  S. Lira,et al.  Luminal bacteria recruit CD103+ dendritic cells into the intestinal epithelium to sample bacterial antigens for presentation. , 2013, Immunity.

[91]  Guillaume Vogt,et al.  The human gene connectome as a map of short cuts for morbid allele discovery , 2013, Proceedings of the National Academy of Sciences.

[92]  David A. Williams,et al.  Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. , 2012, The Journal of clinical investigation.

[93]  Michael D. Cahalan,et al.  A Decade of Imaging Cellular Motility and Interaction Dynamics in the Immune System , 2012, Science.

[94]  F. Rieux-Laucat,et al.  MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. , 2012, Blood.

[95]  J. Shendure,et al.  De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome , 2012, Nature Genetics.

[96]  L. Notarangelo,et al.  A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP , 2012, The Journal of experimental medicine.

[97]  L. Dupré,et al.  The Wiskott-Aldrich syndrome protein permits assembly of a focused immunological synapse enabling sustained T-cell receptor signaling , 2011, Haematologica.

[98]  L. Notarangelo,et al.  Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced beta2 integrin high-affinity state. , 2010, Blood.

[99]  S. Holland,et al.  Combined immunodeficiency associated with DOCK8 mutations. , 2009, The New England journal of medicine.

[100]  Edward R B McCabe,et al.  Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. , 2009, The Journal of allergy and clinical immunology.

[101]  W. Abou-Kheir,et al.  Regulation of podosome dynamics by WASp phosphorylation: implication in matrix degradation and chemotaxis in macrophages , 2009, Journal of Cell Science.

[102]  M. Sixt,et al.  Cdc42-dependent leading edge coordination is essential for interstitial dendritic cell migration. , 2009, Blood.

[103]  A. Bretscher,et al.  T cell antigen receptor signaling and immunological synapse stability require myosin IIA , 2009, Nature Immunology.

[104]  H. D. Liggitt,et al.  A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic Protein 1 in lymphopoiesis and innate immunity , 2008, The Journal of experimental medicine.

[105]  J. Puck,et al.  The actin regulator coronin-1A is mutated in a thymic egress deficient mouse strain and in a T−B+NK+ SCID patient , 2008, Nature Immunology.

[106]  A. Prescott,et al.  TLR ligand–induced podosome disassembly in dendritic cells is ADAM17 dependent , 2008, The Journal of cell biology.

[107]  Peter Friedl,et al.  Interstitial leukocyte migration and immune function , 2008, Nature Immunology.

[108]  D. Rawlings,et al.  Wiskott-Aldrich syndrome protein deficiency in B cells results in impaired peripheral homeostasis , 2008, Blood.

[109]  L. Fetler,et al.  Expression of Wiskott-Aldrich Syndrome Protein in Dendritic Cells Regulates Synapse Formation and Activation of Naive CD8+ T Cells1 , 2008, The Journal of Immunology.

[110]  S. Burns,et al.  Impaired T-cell priming in vivo resulting from dysfunction of WASp-deficient dendritic cells. , 2007, Blood.

[111]  S. Tsuboi,et al.  Wiskott-Aldrich Syndrome Protein Is a Key Regulator of the Phagocytic Cup Formation in Macrophages* , 2007, Journal of Biological Chemistry.

[112]  K. J. Henley,et al.  Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia. , 2007, Blood.

[113]  R. Geha,et al.  Transcellular diapedesis is initiated by invasive podosomes. , 2007, Immunity.

[114]  Jake M. Hofman,et al.  Opposing Effects of PKCθ and WASp on Symmetry Breaking and Relocation of the Immunological Synapse , 2007, Cell.

[115]  S. Tsuboi Requirement for a Complex of Wiskott-Aldrich Syndrome Protein (WASP) with WASP Interacting Protein in Podosome Formation in Macrophages1 , 2007, The Journal of Immunology.

[116]  D. Billadeau,et al.  Regulation of T-cell activation by the cytoskeleton , 2007, Nature Reviews Immunology.

[117]  A. Worth,et al.  WIP Regulates the Stability and Localization of WASP to Podosomes in Migrating Dendritic Cells , 2022 .

[118]  D. Danilenko,et al.  Requirement for Coronin 1 in T Lymphocyte Trafficking and Cellular Homeostasis , 2006, Science.

[119]  S. Simon,et al.  Impaired integrin-dependent function in Wiskott-Aldrich syndrome protein-deficient murine and human neutrophils. , 2006, Immunity.

[120]  W. Vainchenker,et al.  Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment. , 2006, Blood.

[121]  R. Geha,et al.  WIP and WASP play complementary roles in T cell homing and chemotaxis to SDF-1alpha. , 2006, International immunology.

[122]  F. Alt,et al.  WASP deficiency leads to global defects of directed leukocyte migration in vitro and in vivo , 2005, Journal of leukocyte biology.

[123]  Samantha J. Hardy,et al.  Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein. , 2005, Blood.

[124]  Samantha J. Hardy,et al.  Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response. , 2005, Blood.

[125]  A. Prescott,et al.  Enhanced Dendritic Cell Antigen Capture via Toll-Like Receptor-Induced Actin Remodeling , 2004, Science.

[126]  R. Ahmed,et al.  Immunological memory in humans. , 2004, Seminars in immunology.

[127]  K. Siminovitch,et al.  The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse. , 2003, Immunity.

[128]  Michael J. Byrne,et al.  Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation. , 2002, Molecular cell.

[129]  Michael J. Byrne,et al.  Wiskott–Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[130]  L. Dupré,et al.  Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation. , 2002, Immunity.

[131]  G. E. Jones,et al.  Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation. , 2001, Blood.

[132]  P. Matzinger,et al.  Danger signals: SOS to the immune system. , 2001, Current opinion in immunology.

[133]  K. Schwarz,et al.  The interaction between Cdc42 and WASP is required for SDF-1-induced T-lymphocyte chemotaxis. , 2001, Blood.

[134]  K. Kaushansky,et al.  Actin reorganization and proplatelet formation in murine megakaryocytes: the role of protein kinase calpha. , 2001, Blood.

[135]  I. Mellman,et al.  Developmental Control of Endocytosis in Dendritic Cells by Cdc42 , 2000, Cell.

[136]  G L Johnson,et al.  Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[137]  A Shcherbina,et al.  WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction. , 1999, Journal of immunology.

[138]  M. Aepfelbacher,et al.  Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[139]  I. Matsuda,et al.  A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[140]  F. Sánchez‐Madrid,et al.  Cytoskeletal rearrangement during migration and activation of T lymphocytes. , 1999, Trends in cell biology.

[141]  U. Francke,et al.  Wiskott–Aldrich Syndrome Protein, a Novel Effector for the GTPase CDC42Hs, Is Implicated in Actin Polymerization , 1996, Cell.

[142]  T. Heath Basic immunology , 1978, Nature.

[143]  D. C. Campbell,et al.  Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. , 1954, Pediatrics.