A síndrome de Wiskott-Aldrich (WAS) é uma doença de imunodeficiência primária caracterizada por microtrombocitopenia, eczema, infecções e um risco aumentado de manifestações autoimunes e malignidades.
Introdução
O que você precisa saber de cara
A síndrome de Wiskott-Aldrich (WAS) é uma doença de imunodeficiência primária caracterizada por microtrombocitopenia, eczema, infecções e um risco aumentado de manifestações autoimunes e malignidades.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 45 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 88 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive.
Regulates insulin sensitivity and metabolic homeostasis (PubMed:25738459, PubMed:33468709). Inhibits the folate cycle, thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5-aminoimidazole-4-carboxamide (AICAR) and the activation of the metabolic regulator 5'-AMP-activated protein kinase (AMPK) (PubMed:25738459). Protects against age-dependent and diet-induced insulin resistance as well as diet-induced obesity (PubMed:25738459)
SecretedMitochondrionNucleus
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
381 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,001 variantes classificadas pelo ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Wiskott-Aldrich
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Outros ensaios clínicos
41 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 840
Nanoengineered 3D culture substrate enables superior persistence and polyclonal engraftment of genetically engineered hematopoietic stem cells.
Ex vivo culture of hematopoietic stem and progenitor cells (HSPCs) is required for gene therapy applications but inadvertently triggers detrimental cellular responses, potentially threatening clinical success. In this study, we employ nichoids, biocompatible 3D culture substrates with cell-scale resolution, to provide HSPCs with mechanical support during ex vivo manipulation. This innovative 3D system improves HSPC multi-lineage differentiation and engraftment capacity by leveraging mechanobiological control over nuclear morphology, cytoskeleton organization, metabolism, and DNA integrity. Notably, 3D culture enables efficient genetic engineering across multiple platforms, including long-range gene editing, base- and prime-editing, and lentiviral-mediated gene addition. Moreover, this scaffold increases the clonal output and persistence of genetically engineered cells in xenotransplantation experiments, including a clinical protocol for lentiviral gene addition in Wiskott-Aldrich syndrome. Overall, we propose a transformative approach to enhance the efficacy and safety of emerging and established hematopoietic stem cell-based gene therapy applications.
Drosophila Abi maintains blood cell homeostasis by promoting clathrin-mediated endocytosis of Notch.
Abl-interactor (Abi) proteins induce actin polymerization by activating Wiskott-Aldrich syndrome protein (WASp) or SCAR/WASP-family verprolin-homologous protein. Loss of mammalian Abi1 causes myeloproliferative neoplasm; however, little is known about how the Abi family of actin-regulatory proteins regulates blood cell homeostasis. Here, we demonstrate that Drosophila Abi promotes plasmatocyte-to-crystal cell transdifferentiation but represses plasmatocyte-to-lamellocyte transdifferentiation through Notch signaling. Consistent with a previously demonstrated role of clathrin-mediated endocytosis (CME) in Notch signaling activation, we find that Abi promotes Notch-CME by recruiting WASp and the Notch receptor to nascent sites of CME. Finally, we demonstrate that CME and crystal cell formation are inhibited by Abelson (Abl)-mediated phosphorylation of Abi but require PTP61F, a phosphatase that reverses this phosphorylation. Our findings identify Abi as a critical integrator of actin remodeling and Notch-CME and reveal opposing roles of Abl and PTP61F in regulating Abi activity to maintain blood cell homeostasis.
A nuclear-targeted activity-based sensing probe for ratiometric imaging of formaldehyde reveals endogenous epigenetic contributors to the nuclear formaldehyde pool.
Formaldehyde (FA) is both a one-carbon (1C) metabolite and a potent genotoxin in living cells. FA plays beneficial roles in endogenous catabolic processes and cellular signaling, but its potent electrophilicity necessitates strict regulation. This dichotomy is especially important in the nucleus, where endogenously produced FA has been shown to promote toxicity and disease by generating deleterious DNA adducts. More broadly, the sources and scavenging mechanisms of FA differ across subcellular compartments, underscoring the need for imaging sensors with subcellular spatial resolution to accurately probe contributions of FA to transient, local 1C pools. Here, we report NucRFAP-2, a nuclear-targeted, activity-based ratiometric probe for FA detection, and apply it to monitor dynamic changes in the nuclear FA pool. Using this first-generation reagent for nuclear FA imaging, we demonstrate that genetic perturbation of key FA clearance pathways alters nuclear FA levels by identifying alcohol dehydrogenase 5 (ADH5) as a principal regulator of nuclear FA homeostasis. Furthermore, NucRFAP-2 reveals elevated nuclear FA pools in patient-derived T and B lymphocytes deficient in Wiskott-Aldrich syndrome protein (WASp) and Fanconi anemia group D2 protein (FANCD2), suggesting that replication-associated epigenetic rewiring may contribute to aldehyde-associated pathologies. By demonstrating the ability of NucRFAP-2 to reveal an interplay between FA metabolism, genome integrity, and 1C homeostasis, we showcase this probe as a potentially powerful chemical tool to uncover novel mechanisms of nuclear FA biology.
Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Wiskott-Aldrich syndrome (WAS), an X-linked disorder characterized by immunodeficiency, thrombocytopenia, autoimmunity, and malignancy, can be effectively treated with allogeneic hematopoietic cell transplantation (HCT). Older age at HCT and mismatched donors are known to affect overall survival (OS). However, the influence of specific clinical manifestations or WAS variant class on OS and factors associated with event-free survival (EFS) remain incompletely defined. We analyzed outcomes of 308 patients with WAS who underwent HCT at 37 institutions of the Primary Immune Deficiency Treatment Consortium from 1990 to 2018. With a median follow-up of 5.3 years, the 5-year OS and EFS were 87.2% and 79.7%, respectively. Age ≥5 years, donor type, and a pre-HCT history of severe infection had a negative impact on OS and EFS, whereas pre-HCT autoimmunity had no impact. Reduced-intensity regimens were associated with lower T-cell and myeloid donor chimerism, particularly when non-busulfan-based regimens were used. Low myeloid donor chimerism was associated with lower platelet counts. Mixed chimerism was not consistently associated with post-HCT autoimmunity. Patients with class I (exon 1-2 missense and intron 5 hot spot variants) and class II variants (all others) had similar pre-HCT clinical symptom severity and no difference in OS, EFS, or platelet recovery post-HCT. In conclusion, our study showed excellent long-term OS and EFS after HCT for WAS, highlighting the importance of early HCT, before the development of severe infections. We confirmed that HCT using busulfan-based conditioning was associated with improved donor chimerism and platelet recovery. This trial was registered at www.clinicaltrials.gov as NCT02064933.
Author Correction: Wiskott-Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma.
Publicações recentes
Pharmacological activation of WASp potentiates macrophage phagocytosis and enhances ibrutinib efficacy against mouse models of brain tumors.
Congenital thrombopathies in southern Tunisia : A multicenter study.
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.
Identification of a novel nonsense mutation (c.1369 C > T) in the WAS gene in a neonate: a case report and literature review.
HIV Nef-mediated WAVE2-ARP2/3 inhibition underlies CD4(+) T-cell lamellipodial abnormalities and immune dysfunction.
📚 EuropePMC1.192 artigos no totalmostrando 199
Author Correction: Wiskott-Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma.
Nature medicineMassive Post-Endoscopic Duodenal Hematoma Causing Obstructive Pancreatitis in an Infant With Wiskott-Aldrich Syndrome After Haploidentical Hematopoietic Stem Cell Transplantation.
Pediatric blood & cancerRetarded DNA DSB repair kinetics and augmented radiation sensitivity in Wiskott Aldrich syndrome patients.
Scientific reportsNovel indications for hematopoietic stem cell transplantation in inborn errors of immunity.
Expert review of clinical immunologyDifferent Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family.
Molecular syndromologyA Novel Autoimmune Presentation of Wiskott-Aldrich Syndrome: Type 1 Diabetes.
Immunity, inflammation and diseaseCharacteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study.
Intestinal researchA Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.
Journal of clinical immunologyEcN-Sj16-Exo ameliorates experimental asthma by inhibiting eosinophil extracellular traps formation via N-WASP upregulation.
The European respiratory journalMalignancies in the context of Inborn errors of immunity: an immunologist's view.
Expert review of clinical immunologyWAS Protein Deficiency Disrupts Memory B Cell Formation During Acute LCMV Infection.
Journal of clinical immunologyUnmasking Wiskott-Aldrich Syndrome in Adulthood in a Case of Long-Standing Bleeding, Infections, and Steroid-Induced Morbidity.
CureusBranched actin polymerization drives invasive protrusion formation to promote myoblast fusion during mouse skeletal muscle regeneration.
eLifeDirect Actin Monomer Delivery is a WASP-specific Requirement for Arp2/3 Complex Activation.
Journal of molecular biologyRare Dual Genetic Diagnosis of Wiskott-Aldrich Syndrome and Ghoshal Hematodiaphyseal Dysplasia: Clinical, Diagnostic, and Management Challenges.
CureusNanoengineered 3D culture substrate enables superior persistence and polyclonal engraftment of genetically engineered hematopoietic stem cells.
Cell stem cellSingle-cell RNA sequencing reveals the therapeutic mechanism of Calvatia lilacina in promoting wound healing of anal fistula.
Chinese medicineMembrane curvature initiates Cdc42-FBP17-N-WASP clustering and actin nucleation.
The EMBO journalDrosophila Abi maintains blood cell homeostasis by promoting clathrin-mediated endocytosis of Notch.
The Journal of cell biologyRecent and anticipated novel drug approvals (4Q 2025 through 3Q 2026).
American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System PharmacistsActin waves guide an outward movement of microclusters in the lymphocyte immunological synapse.
EMBO reportsClinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.
Clinical immunology (Orlando, Fla.)Leveraging the active conformation of LFA-1 as a potential target for hematological malignancies.
Molecular therapy. Methods & clinical developmentA nuclear-targeted activity-based sensing probe for ratiometric imaging of formaldehyde reveals endogenous epigenetic contributors to the nuclear formaldehyde pool.
Chemical scienceDupilumab for atopic manifestations in pediatric patients with inborn errors of immunity: efficacy and safety in a genetically diverse cohort.
Frontiers in immunologyHematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Blood advancesComprehensive clinical and immunologic characterization of Wiskott-Aldrich syndrome in Iran: a 10-year cohort study.
BMC immunologyA WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds.
Journal of human immunityReduced Wiskott-Aldrich syndrome protein expression in preeclampsia placenta impairs trophoblast syncytialization by modulating syncytin-2 via FAK/β-catenin pathway.
Frontiers in cell and developmental biologyRe-evaluation of Sudden Death in Wiskott-Aldrich Syndrome: Forensically Problems in Distinguishing Natural Hemorrhage Versus Trauma, Surge of Intracranial Pressure After Vomiting and Putting Forward a Hypothesis of Hemorrhage Threshold to Perfect Elucidation of Murders in Pediatric Hemology.
Academic forensic pathologyMycobacterial Infections in Wiskott Aldrich Syndrome: A Predisposition or Coincidence?
Scandinavian journal of immunologyAdvancements in gene therapy for Wiskott-Aldrich syndrome: from early trials to emerging approaches.
International journal of hematologyAtopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.
Immunologic researchEndophilin-lamellipodin-VASP, key components in fast endophilin-mediated endocytosis, control actin polymerization within liquid-like condensates.
The Journal of biological chemistryIntrinsically disordered enteropathogenic E. coli EspF exploits motif mimicry in high-affinity binding to neural Wiskott-Aldrich syndrome protein and sorting nexin 9.
International journal of biological macromoleculesImmunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.
Frontiers in immunologyEvidence for a post-invasion role of the Chlamydia trachomatis type III secreted effector TmeA in redirection of host plasma membrane-derived material.
mBioEnhancing lentiviral production for WAS gene therapy: a comparative analysis of stable producer cell lines evaluating flatware system and adherent bioreactors in perfusion mode.
Frontiers in bioengineering and biotechnologyIs it time for the A/I (allergist/immunologist) to embrace AI (artificial intelligence) in diagnosis and treatment of the inborn errors of immunity?
Allergy and asthma proceedingsWiskott-Aldrich syndrome complicated with IgG4-related Sclerosing disease: A case report and literature review.
Allergologia et immunopathologiaComorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.
American journal of hematologyCD9 downregulation activates EGFR/ERK/WAVE2 pathway to remodel F-actin and promote proliferation and migration of cholesteatoma epithelial cells.
International immunopharmacologyMechanistic understanding of Wiskott-Aldrich syndrome protein (WASp)-mediated epigenetic regulation of T helper cell differentiation in acute leukemia.
3 BiotechDevelopment of an All-Hydrocarbon Stapled Peptide Targeting BRK1 in Triple-Negative Breast Cancer.
ACS medicinal chemistry lettersThe Role of the Wiskott-Aldrich Syndrome Protein Family in Cancer Development, Invasion, and Metastasis.
Journal of biochemical and molecular toxicologyFirst Report of Hematopoietic Stem Cell Transplantation for Children Diagnosed with Wiskott-Aldrich Syndrome in Vietnam.
Journal of blood medicineNew insights into Wiskott-Aldrich syndrome: ten novel WAS mutations and their clinical impact in a Brazilian cohort.
Frontiers in immunologyManagement of Congenital Palatal Fistula Associated With Wiskott-Aldrich Syndrome.
CureusScreening for Wiskott-Aldrich Syndrome in Chronic Idiopathic Thrombocytopenic Purpura.
Indian journal of pediatricsAgent-based modelling of the early stages of actin polymerisation required to drive endocytosis in Saccharomyces cerevisiae.
Scientific reportsINTEGRIN FUNCTION IN LEUKOCYTE-MEDIATED INFLAMMATION-ACTINOPATHIES IN IMMUNE DISEASES.
Transactions of the American Clinical and Climatological AssociationWAVE complex forms linear arrays at negative membrane curvature to instruct lamellipodia formation.
The Journal of cell biologyNecrotizing fasciitis secondary to Wiskott-Aldrich Syndrome: a unique clinical presentation. Case report.
Case reports in plastic surgery & hand surgeryAllergic manifestations of actinopathies: A review.
The Journal of allergy and clinical immunologyExpression and Regulatory Roles of SKAP2 and Cortactin in Mouse Ovarian Tissue and Oocyte Maturation.
Reproductive sciences (Thousand Oaks, Calif.)Phenotypic screens for SIRPA expression reveal RAB21 as a general regulator of macrophage surface identity.
Cell reportsGlobal Burden of Allergies: Mechanisms of Development, Challenges in Diagnosis, and Treatment.
Life (Basel, Switzerland)Ena/VASP-EVH1 inhibition prevents chemotaxis and metastasis by blocking the EVH1-WAVE2 interaction.
Proceedings of the National Academy of Sciences of the United States of AmericaLong-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET).
EClinicalMedicineUnraveling a novel missense mutation (c.A248C) in Wiskott-Aldrich syndrome gene by whole exome sequencing: Insights from dynamic simulation, molecular docking and in-silico studies.
International immunopharmacologyARP2/3 regulates cell surface dynamics of CeTOCA-1 in C. elegans zygotes.
Journal of biosciencesClinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.
Research and practice in thrombosis and haemostasisThe tumor suppressor RASSF8: A WAVE interaction partner controlling migration and cohesion of invasive border cells in Drosophila.
Proceedings of the National Academy of Sciences of the United States of AmericaUnveiling Oncogenic Power of WAVE1 in Bladder Cancer Progression.
Biochemistry. BiokhimiiaDisruption of Retriever Function Impacts Retrograde Trafficking From Endosomes.
Cell biology internationalBioequivalent Letermovir Usage for Prophylaxis in Haploidentical Stem Cell Transplantation at High Risk of CMV Reactivation: A Report of Two Cases From India.
CureusEfficacy and safety of romiplostim and eltrombopag in management of thrombocytopenia in Wiskott-Aldrich syndrome patients.
British journal of haematologyFunctional divergence of plant SCAR/WAVE proteins is determined by intrinsically disordered regions.
Science advancesCompetitive binding of actin and SH3 domains at proline-rich regions of Las17/WASP regulates actin polymerisation.
Communications biologyDisease, Accident, and Trauma: A Case Report on Sudden Death in Wiskott-Aldrich's Syndrome.
Academic forensic pathologyHuman Papillomavirus Type 16 Stimulates WAVE1- and WAVE2-Dependent Actin Protrusions for Endocytic Entry.
VirusesChlamydia trachomatis TmeA promotes pedestal-like structure formation through N-WASP and TOCA-1 interactions.
mSphereHow I treat Wiskott-Aldrich syndrome.
BloodARHGAP12 suppresses F-actin assembly to control epithelial tight junction mechanics and paracellular leak pathway permeability.
Cell reportsLymph node microscopic findings in Wiskott-Aldrich syndrome.
Journal of hematopathologyGastrodin Mitigates Ketamine-Induced Inhibition of F-Actin Remodeling and Cell Migration by Regulating the Rho Signaling Pathway.
BiomedicinesGαi2 Induces Cell Migration in PC3 Prostate Cancer Cells in the Absence of Rac1 Activation.
International journal of molecular sciencesMembrane composition and curvature in SNX9-mediated actin polymerization.
Molecular biology of the cellGene therapy for inborn errors of immunity: Current clinical progress.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyMolecular mechanism of Arp2/3 complex activation by nucleation-promoting factors and an actin monomer.
Proceedings of the National Academy of Sciences of the United States of AmericaCell signaling facilitates apical constriction by basolaterally recruiting Arp2/3 via Rac and WAVE.
The Journal of cell biology[Observational Study on the Diagnostic Efficacy of Metagenomic Next-Generation Sequencing for Bloodstream Infections Secondary to Hematologic Diseases in Children].
Zhongguo shi yan xue ye xue za zhiConstruction of the Red Swamp Crayfish (Procambarus clarkii) Family Selection Population and Whole Genome Sequencing to Screen WIPFI Candidate Genes Related to Growth.
GenesDupilumab successfully controlled eczema in Wiskott-Aldrich Syndrome over 52 weeks.
Pediatric researchThe WASP/WAVE Protein Family in Breast Cancer and Their Role in the Metastatic Cascade.
Cancer genomics & proteomicsImmunoactinopathies revisited: understanding clinical manifestations and biological pathways.
BloodHaploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott-Aldrich syndrome: a case report.
Frontiers in immunologyCharacterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome.
Frontiers in immunologyAdvancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
International journal of neonatal screeningViral-based gene therapy clinical trials for immune deficiencies and blood disorders from 2013 until 2023 - an overview.
Regenerative therapyLINC01305 and LAD1 Co-Regulate CTTN and N-WASP Phosphorylation, Mediating Cytoskeletal Reorganization to Promote ESCC Metastasis.
Molecular carcinogenesisNuclear N-WASP Induces Actin Polymerization in the Nucleus with Cortactin as an Essential Factor.
CellsThe WAVE complex in developmental and adulthood brain disorders.
Experimental & molecular medicineExploring Mycolactone-The Unique Causative Toxin of Buruli Ulcer: Biosynthetic, Synthetic Pathways, Biomarker for Diagnosis, and Therapeutic Potential.
Toxins[Mechanism of WAVE1 regulation of lipopolysaccharide-induced mitochondrial metabolic abnormalities and inflammatory responses in macrophages].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsGene Correction of Wiskott-Aldrich syndrome iPS Cells Rescues Proplatelet Defects and Improves Platelet Size.
Thrombosis and haemostasisMutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.
Journal of clinical immunologyActin polymerization counteracts prewetting of N-WASP on supported lipid bilayers.
Proceedings of the National Academy of Sciences of the United States of AmericaX-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature.
Journal of pediatrics. Clinical practiceInborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children.
Journal of clinical immunologyWAVE1 and WAVE2 facilitate human papillomavirus-driven actin polymerization during cellular entry.
bioRxiv : the preprint server for biologyWiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels.
Journal of autoimmunityComprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.
World journal of pediatrics : WJPSpatiotemporal coordination of actin regulators generates invasive protrusions in cell-cell fusion.
Nature cell biologyPathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.
Life (Basel, Switzerland)Long-term lineage commitment in haematopoietic stem cell gene therapy.
NatureRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergologie selectA human DCC variant causing mirror movement disorder reveals that the WAVE regulatory complex mediates axon guidance by netrin-1-DCC.
Science signalingAdaptor protein Abelson interactor 1 in homeostasis and disease.
Cell communication and signaling : CCSScar/WAVE drives actin protrusions independently of its VCA domain using proline-rich domains.
Current biology : CBMultifaceted role of the actin-binding protein WIP: Promotor and inhibitor of tumor progression and dissemination.
Cytoskeleton (Hoboken, N.J.)Hematopoietic cell transplantation for inborn errors of immunity: an update on approaches, outcomes and innovations.
Current opinion in pediatricsWiskott-Aldrich Syndrome: A Report of a Rare X-Linked Disorder.
CureusSomatic reversion in Wiskott-Aldrich syndrome: Case reports and mechanistic insights.
Scandinavian journal of immunologyImmunodeficiency: Gene therapy for primary immune deficiency.
Allergy and asthma proceedingsTviblindi algorithm identifies branching developmental trajectories of human B-cell development and describes abnormalities in RAG-1 and WAS patients.
European journal of immunologyEffective management of acrodermatitis continua of Hallopeau with guselkumab in a Wiskott-Aldrich syndrome patient.
International journal of dermatologyThe Chlamydia pneumoniae effector SemD exploits its host's endocytic machinery by structural and functional mimicry.
Nature communications[Advances in gene therapy for inborn errors of immunity].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsStructural basis for coupling of the WASH subunit FAM21 with the endosomal SNX27-Retromer complex.
Proceedings of the National Academy of Sciences of the United States of AmericaNormal mean platelet volume and thrombocytopenia: It may still be Wiskott-Aldrich syndrome.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyPSIP1 promotes gefitinib resistance in lung adenocarcinoma by inducing the expression of WASF3 and its downstream ITGB3/AKT signaling.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoInterleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series.
BloodThe sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.
ImmunogeneticsRole of WAVE3 as an actin binding protein in the pathology of triple negative breast cancer.
Cytoskeleton (Hoboken, N.J.)Polyglutamine binding protein 1 regulates neurite outgrowth through recruiting N-WASP.
The Journal of biological chemistryUpdate on the Use of Thrombopoietin-Receptor Agonists in Pediatrics.
HamostaseologieA first-in-class Wiskott-Aldrich syndrome protein activator with antitumor activity in hematologic cancers.
HaematologicaBrucella NpeA is a secreted Type IV effector containing an N-WASP-binding short linear motif that promotes niche formation.
mBioMechanisms of actin filament severing and elongation by formins.
NatureThe mutated cytoplasmic fragile X messenger ribonucleoprotein 1 (FMR1)-interacting protein 2 (CYFIP2 S968F) regulates cocaine-induced reward behaviour and plasticity in the nucleus accumbens.
British journal of pharmacologyMembrane curvature catalyzes actin nucleation through nano-scale condensation of N-WASP-FBP17.
bioRxiv : the preprint server for biologySOX4 induces cytoskeleton remodeling and promotes cell motility via N-wasp/ARP2/3 pathway in colorectal cancer cells.
Experimental cell researchActin-nucleation promoting factor N-WASP influences alpha-synuclein condensates and pathology.
Cell death & diseaseIt's all about location: Targeting the right spot for Wiskott-Aldrich syndrome.
Molecular therapy. Methods & clinical developmentVaccination against respiratory tract pathogens in primary immune deficiency patients receiving immunoglobulin replacement therapy.
Tuberkuloz ve toraksPan-Cancer Proteomics Analysis Reveals Wiskott-Aldrich Syndrome Protein as a Potential Regulator of Programmed Death-Ligand 1.
Journal of proteome researchSpectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyWiskott Aldrich syndrome protein (WASp)-deficient Th1 cells promote R-loop-driven transcriptional insufficiency and transcription-coupled nucleotide excision repair factor (TC-NER)-driven genome-instability in the pathogenesis of T cell acute lymphoblastic leukemia.
Clinical immunology (Orlando, Fla.)Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
BloodNeural Wiskott-Aldrich syndrome protein (N-WASP) promotes distant metastasis in pancreatic ductal adenocarcinoma via activation of LOXL2.
Oncology researchIQGAP1 and NWASP promote human cancer cell dissemination and metastasis by regulating β1-integrin via FAK and MRTF/SRF.
Cell reportsWiskott-Aldrich syndrome protein expression in female WAS carriers: A flow cytometry study from North India.
Pediatric blood & cancerThe NADPH oxidase 2 subunit p47phox binds to the WAVE regulatory complex and p22phox in a mutually exclusive manner.
The Journal of biological chemistryGene editing-based targeted integration for correction of Wiskott-Aldrich syndrome.
Molecular therapy. Methods & clinical developmentDifferential Diagnosis and Interdisciplinary Workup of a Pediatric Patient With an Unknown Immune Condition: Chronic Respiratory Distress Secondary to Viral Illness and Developmental Consequences.
CureusA Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family.
International journal of genomicsHIV-1 Mediated Cortical Actin Disruption Mirrors ARP2/3 Defects Found in Primary T Cell Immunodeficiencies.
bioRxiv : the preprint server for biologyWiskott-Aldrich syndrome: A new synonym mutation in the WAS gene.
Intractable & rare diseases researchDifferential Role of the RAC1-Binding Proteins FAM49b (CYRI-B) and CYFIP1 in Platelets.
CellsTRANSPARENT TESTA GLABRA2 defines trichome cell shape by modulating actin cytoskeleton in Arabidopsis thaliana.
Plant physiologyIMD2, located near the boundary of heterochromatin regions, is regulated by multiple HAT-related factors.
Genes & genetic systemsBoth Las17-binding sites on Arp2/3 complex are important for branching nucleation and assembly of functional endocytic actin networks in S. cerevisiae.
The Journal of biological chemistryControlled WASp activity regulates the proliferative response for Treg cell differentiation in the thymus.
European journal of immunologyA mutation in F-actin polymerization factor suppresses the distal arthrogryposis type 5 PIEZO2 pathogenic variant in Caenorhabditis elegans.
Development (Cambridge, England)Mechanisms regulating the intracellular trafficking and release of CLN5 and CTSD.
Traffic (Copenhagen, Denmark)GTP-dependent regulation of heterochromatin fluctuations at subtelomeric regions in Saccharomyces cerevisiae.
Genes to cells : devoted to molecular & cellular mechanismsWAVE2 Is a Vital Regulator in Myogenic Differentiation of Progenitor Cells through the Mechanosensitive MRTFA-SRF Axis.
CellsAllogeneic hematopoietic stem cell transplantation outcome in oldest known surviving patients with Wiskott-Aldrich syndrome.
The journal of allergy and clinical immunology. GlobalInhibitory effects of estetrol on the invasion and migration of immortalized human endometrial stromal cells.
Endocrine journalModulating Liquid-Liquid Phase Separation of Nck Adaptor Protein against Enteropathogenic Escherichia coli Infection.
ACS central scienceAssociation of Wiskott-Aldrich syndrome protein (WASp) in epigenetic regulation of B cell differentiation in non-small-cell lung cancer (NSCLC).
Medical oncology (Northwood, London, England)Role of Wiskott Aldrich syndrome protein in haematological malignancies: genetics, molecular mechanisms and therapeutic strategies.
Pathology, research and practiceTuftelin1 drives experimental pulmonary fibrosis progression by facilitating stress fiber assembly.
Respiratory researchWiskott-Aldrich syndrome.
American journal of hematologyChanges in bile acid composition are correlated with reduced intestinal cholesterol uptake in intestine-specific WASH-deficient mice.
Biochimica et biophysica acta. Molecular and cell biology of lipidsN-WASP-dependent branched actin polymerization attenuates B-cell receptor signaling by increasing the molecular density of receptor clusters.
eLifeFAM21 interacts with Ku to promote the localization of WASH to DNA double strand break sites.
DNA repairCase report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.
Frontiers in geneticsWIPF1 promotes gastric cancer progression by regulating PI3K/Akt signaling in a myocardin-dependent manner.
iScienceUnusual infection in a haploidentical transplant of Wiskott - Aldrich syndrome.
Medical journal, Armed Forces IndiaSuccessful T replete haploidentical HSCT with post-transplant cyclophosphamide in two patients with Wiskott-Aldrich syndrome.
Medical journal, Armed Forces IndiaLncRNA MYLK antisense RNA 1 activates cell division cycle 42/Neutal Wiskott-Aldrich syndrome protein pathway via microRNA-101-5p to accelerate epithelial-to-mesenchymal transition of colon cancer cells.
The Kaohsiung journal of medical sciencesWAVE3 Facilitates the Tumorigenesis and Metastasis of Tongue Squamous Cell Carcinoma via EMT.
Applied biochemistry and biotechnologyA single-cell atlas of immunocytes in the spleen of a mouse model of Wiskott-Aldrich syndrome.
Cellular immunologyLINC00869 Promotes Hepatocellular Carcinoma Metastasis via Protrusion Formation.
Molecular cancer research : MCRB cell-mediated CD4 T-cell costimulation via CD86 exacerbates pro-inflammatory cytokine production during autoimmune intestinal inflammation.
Mucosal immunologyMechanism of synergistic activation of Arp2/3 complex by cortactin and WASP-family proteins.
Nature communicationsWiskott-Aldrich syndrome diagnosed after cellulitis at the BCG vaccination site.
Pediatrics international : official journal of the Japan Pediatric SocietyWASP facilitates tumor mechanosensitivity in T lymphocytes.
bioRxiv : the preprint server for biologyEstrogen receptors differentially modifies lamellipodial and focal adhesion dynamics in airway smooth muscle cell migration.
Molecular and cellular endocrinologyThe SH3 binding site in front of the WH1 domain contributes to the membrane binding of the BAR domain protein endophilin A2.
Journal of biochemistryRare solid tumors in a patient with Wiskott-Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature.
Frontiers in immunologyConditional Knockout of N-WASP Enhanced the Formation of Keratinizing Squamous Cell Carcinoma Induced by KRasG12D.
CancersProgress in the field of hematopoietic stem cell-based therapies for inborn errors of immunity.
Current opinion in pediatricsCase report: Allogeneic stem cell transplantation for type B insulin resistance.
Frontiers in medicineWho's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
Clinical immunology (Orlando, Fla.)The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures.
BMC medical genomicsFacial Skin Lesions in a Boy With Wiskott-Aldrich Syndrome.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of AmericaWASF3 disrupts mitochondrial respiration and may mediate exercise intolerance in myalgic encephalomyelitis/chronic fatigue syndrome.
Proceedings of the National Academy of Sciences of the United States of AmericaMyelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyMutation in F-actin Polymerization Factor Suppresses Distal Arthrogryposis Type 5 (DA5) PIEZO2 Pathogenic Variant in Caenorhabditis elegans.
bioRxiv : the preprint server for biologyOutcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.
BloodHaploidentical bone marrow transplantation in a pediatric patient with Wiskott-Aldrich syndrome. A case report.
Archivos argentinos de pediatriaSevere eczema in Wiskott-Aldrich syndrome-related disorder successfully treated with dupilumab.
Pediatric dermatologyKawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications.
Diagnostics (Basel, Switzerland)Strumpellin/WASHC5 regulates the structural plasticity of cortical neurons involved in gait coordination.
Biochemical and biophysical research communicationsDifferential analysis of immune reconstitution after allogeneic hematopoietic stem cell transplantation in children with Wiskott-Aldrich syndrome and chronic granulomatous disease.
Frontiers in immunologyWhole-genome DNA methylation profiling reveals epigenetic signatures in developing muscle in Tan and Hu sheep and their offspring.
Frontiers in veterinary scienceAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Nanoengineered 3D culture substrate enables superior persistence and polyclonal engraftment of genetically engineered hematopoietic stem cells.
- Drosophila Abi maintains blood cell homeostasis by promoting clathrin-mediated endocytosis of Notch.
- A nuclear-targeted activity-based sensing probe for ratiometric imaging of formaldehyde reveals endogenous epigenetic contributors to the nuclear formaldehyde pool.
- Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
- Author Correction: Wiskott-Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma.
- Pharmacological activation of WASp potentiates macrophage phagocytosis and enhances ibrutinib efficacy against mouse models of brain tumors.
- Congenital thrombopathies in southern Tunisia : A multicenter study.
- A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.
- Identification of a novel nonsense mutation (c.1369 C > T) in the WAS gene in a neonate: a case report and literature review.
- HIV Nef-mediated WAVE2-ARP2/3 inhibition underlies CD4(+) T-cell lamellipodial abnormalities and immune dysfunction.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:906(Orphanet)
- OMIM OMIM:301000(OMIM)
- MONDO:0010518(MONDO)
- GARD:7895(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q953638(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
