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Síndrome Wiskott-Aldrich
ORPHA:906CID-10 · D82.0CID-11 · 3B62.0YOMIM 301000DOENÇA RARA

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.

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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.

Pesquisas ativas
5 ensaios
41 total registrados no ClinicalTrials.gov
Publicações científicas
2.585 artigos
Último publicado: 2026 Apr 8

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.1
Europe
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D82.0
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
18 sintomas
🫁
Pulmão
7 sintomas
🧬
Pele e cabelo
3 sintomas
🫃
Digestivo
3 sintomas
😀
Face
2 sintomas
🫘
Rins
2 sintomas

+ 45 sintomas em outras categorias

Características mais comuns

100%prev.
Início na infância
Frequência: 11/11
100%prev.
Fisiologia anormal de células natural killer
Frequência: 2/2
100%prev.
Volume plaquetário médio diminuído
Frequência: 63/63
100%prev.
Trombocitopenia
Muito frequente (99-80%)
100%prev.
Dermatite eczematoide
Ocasional (29-5%)
90%prev.
Infecções respiratórias recorrentes
Muito frequente (99-80%)
88sintomas
Muito frequente (19)
Frequente (20)
Ocasional (35)
Muito raro (1)
Sem dados (13)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 88 características clínicas mais associadas, ordenadas por frequência.

Início na infânciaInfantile onset
Frequência: 11/11100%
Fisiologia anormal de células natural killerAbnormal natural killer cell physiology
Frequência: 2/2100%
Volume plaquetário médio diminuídoDecreased mean platelet volume
Frequência: 63/63100%
TrombocitopeniaThrombocytopenia
Muito frequente (99-80%)100%
Dermatite eczematoideEczematoid dermatitis
Ocasional (29-5%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.585PubMed
Últimos 10 anos200publicações
Pico202574 papers
Linha do tempo
2026Hoje · 2026🧪 1995Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

WASMitochondrial-derived peptide MOTS-cDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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)

LOCALIZAÇÃO

SecretedMitochondrionNucleus

VIAS BIOLÓGICAS (7)
FCGR3A-mediated phagocytosisRHO GTPases Activate WASPs and WAVEsRegulation of actin dynamics for phagocytic cup formationRHOJ GTPase cycleRAC1 GTPase cycle
VIAS REACTOME (2)
EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
301.6 TPM
Baço
138.4 TPM
Linfócitos
100.6 TPM
Pulmão
38.0 TPM
Intestino delgado
24.2 TPM
OUTRAS DOENÇAS (3)
thrombocytopenia 1X-linked severe congenital neutropeniaWiskott-Aldrich syndrome
HGNC:12731UniProt:A0A0C5B5G6

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 QIVIGY kthm (HUMAN IMMUNOGLOBULIN G)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

381 variantes patogênicas registradas no ClinVar.

🧬 WAS: NM_000377.3(WAS):c.252C>A (p.Phe84Leu) ()
🧬 WAS: NM_000377.3(WAS):c.92A>T (p.Glu31Val) ()
🧬 WAS: NM_000377.3(WAS):c.559+1G>A ()
🧬 WAS: NM_000377.3(WAS):c.583del (p.Leu195fs) ()
🧬 WAS: NM_000377.3(WAS):c.756G>A (p.Trp252Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,001 variantes classificadas pelo ClinVar.

100
501
400
Patogênica (10.0%)
VUS (50.0%)
Benigna (40.0%)
VARIANTES MAIS SIGNIFICATIVAS
WAS: NM_000377.3(WAS):c.252C>A (p.Phe84Leu) [Likely pathogenic]
WAS: NM_000377.3(WAS):c.92A>T (p.Glu31Val) [Likely pathogenic]
WIPF1: NM_001375834.1(WIPF1):c.290C>T (p.Pro97Leu) [Uncertain significance]
WIPF1: NM_001375834.1(WIPF1):c.1124G>A (p.Arg375Gln) [Uncertain significance]
WAS: NM_000377.3(WAS):c.1315C>T (p.Arg439Trp) [Uncertain significance]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
2Fase 211
1Fase 11
·Pré-clínico7
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Wiskott-Aldrich

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

41 ensaios clínicos encontrados, 5 ativos.

Distribuição por fase
NCT01821781 · Immune Disorder HSCT ProtocolAtivo
PHASE2
NCT01652092 · Allogeneic Hematopoietic Stem Cell Transplant for Patients W…Ativo
NA
NCT03837483 · A Clinical Study to Evaluate the Use of a Cryopreserved Form…Ativo
PHASE3
NCT02333760 · Long Term Safety Follow up of Haematopoietic Stem Cell Gene …Ativo
PHASE1, PHASE2
NCT01410825 · Pilot and Feasibility Study of Hematopoietic Stem Cell Gene …Concluído
PHASE1, PHASE2
NCT05687474 · Baby Detect : Genomic Newborn ScreeningConcluído
NCT03333486 · Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiat…Encerrado
PHASE2
NCT01515462 · Gene Therapy for Wiskott-Aldrich SyndromeConcluído
PHASE1, PHASE2
NCT00006319 · Molecular and Clinical Studies of Primary Immunodeficiency D…UNKNOWN
NCT03513328 · Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell …Concluído
PHASE1, PHASE2
NCT01953016 · Participation in a Research Registry for Immune DisordersConcluído
NCT01347242 · Gene Therapy for Wiskott-Aldrich Syndrome (WAS)Concluído
PHASE1, PHASE2
NCT04350164 · Romiplostim Treatment for Thrombocytopenia in Patients With …Concluído
NCT02064933 · Patients Treated for Wiskott-Aldrich Syndrome (WAS) Since 19…Concluído
NCT04371939 · Efficacy and Safety of Romiplostim Versus Eltrombopag in the…UNKNOWN
PHASE2
NCT01917708 · Bone Marrow Transplant With Abatacept for Non-Malignant Dise…Concluído
PHASE1
NCT01529827 · Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Ir…Concluído
PHASE2
NCT00909363 · Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (W…Encerrado
PHASE2
NCT03399461 · Targeted Literature Review and Subject Interviews in Wiskott…Concluído
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
840 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 840

#1

Nanoengineered 3D culture substrate enables superior persistence and polyclonal engraftment of genetically engineered hematopoietic stem cells.

Cell stem cell2026 Feb 05

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.

#2

Drosophila Abi maintains blood cell homeostasis by promoting clathrin-mediated endocytosis of Notch.

The Journal of cell biology2026 Mar 02

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.

#3

A nuclear-targeted activity-based sensing probe for ratiometric imaging of formaldehyde reveals endogenous epigenetic contributors to the nuclear formaldehyde pool.

Chemical science2026 Feb 04

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.

#4

Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.

Blood advances2026 Mar 10

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.

#5

Author Correction: Wiskott-Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma.

Nature medicine2026 Mar 20

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.192 artigos no totalmostrando 199

2026

Author Correction: Wiskott-Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma.

Nature medicine
2026

Massive Post-Endoscopic Duodenal Hematoma Causing Obstructive Pancreatitis in an Infant With Wiskott-Aldrich Syndrome After Haploidentical Hematopoietic Stem Cell Transplantation.

Pediatric blood &amp; cancer
2026

Retarded DNA DSB repair kinetics and augmented radiation sensitivity in Wiskott Aldrich syndrome patients.

Scientific reports
2026

Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.

Expert review of clinical immunology
2026

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family.

Molecular syndromology
2026

A Novel Autoimmune Presentation of Wiskott-Aldrich Syndrome: Type 1 Diabetes.

Immunity, inflammation and disease
2026

Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study.

Intestinal research
2026

A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.

Journal of clinical immunology
2026

EcN-Sj16-Exo ameliorates experimental asthma by inhibiting eosinophil extracellular traps formation via N-WASP upregulation.

The European respiratory journal
2026

Malignancies in the context of Inborn errors of immunity: an immunologist's view.

Expert review of clinical immunology
2026

WAS Protein Deficiency Disrupts Memory B Cell Formation During Acute LCMV Infection.

Journal of clinical immunology
2025

Unmasking Wiskott-Aldrich Syndrome in Adulthood in a Case of Long-Standing Bleeding, Infections, and Steroid-Induced Morbidity.

Cureus
2026

Branched actin polymerization drives invasive protrusion formation to promote myoblast fusion during mouse skeletal muscle regeneration.

eLife
2026

Direct Actin Monomer Delivery is a WASP-specific Requirement for Arp2/3 Complex Activation.

Journal of molecular biology
2025

Rare Dual Genetic Diagnosis of Wiskott-Aldrich Syndrome and Ghoshal Hematodiaphyseal Dysplasia: Clinical, Diagnostic, and Management Challenges.

Cureus
2026

Nanoengineered 3D culture substrate enables superior persistence and polyclonal engraftment of genetically engineered hematopoietic stem cells.

Cell stem cell
2026

Single-cell RNA sequencing reveals the therapeutic mechanism of Calvatia lilacina in promoting wound healing of anal fistula.

Chinese medicine
2026

Membrane curvature initiates Cdc42-FBP17-N-WASP clustering and actin nucleation.

The EMBO journal
2026

Drosophila Abi maintains blood cell homeostasis by promoting clathrin-mediated endocytosis of Notch.

The Journal of cell biology
2026

Recent 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 Pharmacists
2026

Actin waves guide an outward movement of microclusters in the lymphocyte immunological synapse.

EMBO reports
2026

Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.

Clinical immunology (Orlando, Fla.)
2025

Leveraging the active conformation of LFA-1 as a potential target for hematological malignancies.

Molecular therapy. Methods &amp; clinical development
2026

A nuclear-targeted activity-based sensing probe for ratiometric imaging of formaldehyde reveals endogenous epigenetic contributors to the nuclear formaldehyde pool.

Chemical science
2025

Dupilumab for atopic manifestations in pediatric patients with inborn errors of immunity: efficacy and safety in a genetically diverse cohort.

Frontiers in immunology
2026

Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.

Blood advances
2025

Comprehensive clinical and immunologic characterization of Wiskott-Aldrich syndrome in Iran: a 10-year cohort study.

BMC immunology
2026

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds.

Journal of human immunity
2025

Reduced 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 biology
2025

Re-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 pathology
2025

Mycobacterial Infections in Wiskott Aldrich Syndrome: A Predisposition or Coincidence?

Scandinavian journal of immunology
2026

Advancements in gene therapy for Wiskott-Aldrich syndrome: from early trials to emerging approaches.

International journal of hematology
2025

Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.

Immunologic research
2025

Endophilin-lamellipodin-VASP, key components in fast endophilin-mediated endocytosis, control actin polymerization within liquid-like condensates.

The Journal of biological chemistry
2025

Intrinsically 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 macromolecules
2025

Immunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.

Frontiers in immunology
2025

Evidence for a post-invasion role of the Chlamydia trachomatis type III secreted effector TmeA in redirection of host plasma membrane-derived material.

mBio
2025

Enhancing 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 biotechnology
2025

Is 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 proceedings
2025

Wiskott-Aldrich syndrome complicated with IgG4-related Sclerosing disease: A case report and literature review.

Allergologia et immunopathologia
2025

Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.

American journal of hematology
2025

CD9 downregulation activates EGFR/ERK/WAVE2 pathway to remodel F-actin and promote proliferation and migration of cholesteatoma epithelial cells.

International immunopharmacology
2025

Mechanistic understanding of Wiskott-Aldrich syndrome protein (WASp)-mediated epigenetic regulation of T helper cell differentiation in acute leukemia.

3 Biotech
2025

Development of an All-Hydrocarbon Stapled Peptide Targeting BRK1 in Triple-Negative Breast Cancer.

ACS medicinal chemistry letters
2025

The Role of the Wiskott-Aldrich Syndrome Protein Family in Cancer Development, Invasion, and Metastasis.

Journal of biochemical and molecular toxicology
2025

First Report of Hematopoietic Stem Cell Transplantation for Children Diagnosed with Wiskott-Aldrich Syndrome in Vietnam.

Journal of blood medicine
2025

New insights into Wiskott-Aldrich syndrome: ten novel WAS mutations and their clinical impact in a Brazilian cohort.

Frontiers in immunology
2025

Management of Congenital Palatal Fistula Associated With Wiskott-Aldrich Syndrome.

Cureus
2025

Screening for Wiskott-Aldrich Syndrome in Chronic Idiopathic Thrombocytopenic Purpura.

Indian journal of pediatrics
2025

Agent-based modelling of the early stages of actin polymerisation required to drive endocytosis in Saccharomyces cerevisiae.

Scientific reports
2025

INTEGRIN FUNCTION IN LEUKOCYTE-MEDIATED INFLAMMATION-ACTINOPATHIES IN IMMUNE DISEASES.

Transactions of the American Clinical and Climatological Association
2025

WAVE complex forms linear arrays at negative membrane curvature to instruct lamellipodia formation.

The Journal of cell biology
2025

Necrotizing fasciitis secondary to Wiskott-Aldrich Syndrome: a unique clinical presentation. Case report.

Case reports in plastic surgery &amp; hand surgery
2025

Allergic manifestations of actinopathies: A review.

The Journal of allergy and clinical immunology
2025

Expression and Regulatory Roles of SKAP2 and Cortactin in Mouse Ovarian Tissue and Oocyte Maturation.

Reproductive sciences (Thousand Oaks, Calif.)
2025

Phenotypic screens for SIRPA expression reveal RAB21 as a general regulator of macrophage surface identity.

Cell reports
2025

Global Burden of Allergies: Mechanisms of Development, Challenges in Diagnosis, and Treatment.

Life (Basel, Switzerland)
2025

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 America
2025

Long-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).

EClinicalMedicine
2025

Unraveling 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 immunopharmacology
2025

ARP2/3 regulates cell surface dynamics of CeTOCA-1 in C. elegans zygotes.

Journal of biosciences
2025

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.

Research and practice in thrombosis and haemostasis
2025

The 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 America
2025

Unveiling Oncogenic Power of WAVE1 in Bladder Cancer Progression.

Biochemistry. Biokhimiia
2025

Disruption of Retriever Function Impacts Retrograde Trafficking From Endosomes.

Cell biology international
2025

Bioequivalent Letermovir Usage for Prophylaxis in Haploidentical Stem Cell Transplantation at High Risk of CMV Reactivation: A Report of Two Cases From India.

Cureus
2025

Efficacy and safety of romiplostim and eltrombopag in management of thrombocytopenia in Wiskott-Aldrich syndrome patients.

British journal of haematology
2025

Functional divergence of plant SCAR/WAVE proteins is determined by intrinsically disordered regions.

Science advances
2025

Competitive binding of actin and SH3 domains at proline-rich regions of Las17/WASP regulates actin polymerisation.

Communications biology
2025

Disease, Accident, and Trauma: A Case Report on Sudden Death in Wiskott-Aldrich's Syndrome.

Academic forensic pathology
2025

Human Papillomavirus Type 16 Stimulates WAVE1- and WAVE2-Dependent Actin Protrusions for Endocytic Entry.

Viruses
2025

Chlamydia trachomatis TmeA promotes pedestal-like structure formation through N-WASP and TOCA-1 interactions.

mSphere
2025

How I treat Wiskott-Aldrich syndrome.

Blood
2025

ARHGAP12 suppresses F-actin assembly to control epithelial tight junction mechanics and paracellular leak pathway permeability.

Cell reports
2025

Lymph node microscopic findings in Wiskott-Aldrich syndrome.

Journal of hematopathology
2025

Gastrodin Mitigates Ketamine-Induced Inhibition of F-Actin Remodeling and Cell Migration by Regulating the Rho Signaling Pathway.

Biomedicines
2025

Gαi2 Induces Cell Migration in PC3 Prostate Cancer Cells in the Absence of Rac1 Activation.

International journal of molecular sciences
2025

Membrane composition and curvature in SNX9-mediated actin polymerization.

Molecular biology of the cell
2025

Gene therapy for inborn errors of immunity: Current clinical progress.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

Molecular 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 America
2025

Cell signaling facilitates apical constriction by basolaterally recruiting Arp2/3 via Rac and WAVE.

The Journal of cell biology
2025

[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 zhi
2025

Construction of the Red Swamp Crayfish (Procambarus clarkii) Family Selection Population and Whole Genome Sequencing to Screen WIPFI Candidate Genes Related to Growth.

Genes
2025

Dupilumab successfully controlled eczema in Wiskott-Aldrich Syndrome over 52 weeks.

Pediatric research
2025

The WASP/WAVE Protein Family in Breast Cancer and Their Role in the Metastatic Cascade.

Cancer genomics &amp; proteomics
2025

Immunoactinopathies revisited: understanding clinical manifestations and biological pathways.

Blood
2025

Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott-Aldrich syndrome: a case report.

Frontiers in immunology
2025

Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome.

Frontiers in immunology
2025

Advancing 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 screening
2025

Viral-based gene therapy clinical trials for immune deficiencies and blood disorders from 2013 until 2023 - an overview.

Regenerative therapy
2025

LINC01305 and LAD1 Co-Regulate CTTN and N-WASP Phosphorylation, Mediating Cytoskeletal Reorganization to Promote ESCC Metastasis.

Molecular carcinogenesis
2025

Nuclear N-WASP Induces Actin Polymerization in the Nucleus with Cortactin as an Essential Factor.

Cells
2025

The WAVE complex in developmental and adulthood brain disorders.

Experimental &amp; molecular medicine
2024

Exploring Mycolactone-The Unique Causative Toxin of Buruli Ulcer: Biosynthetic, Synthetic Pathways, Biomarker for Diagnosis, and Therapeutic Potential.

Toxins
2024

[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 pediatrics
2025

Gene Correction of Wiskott-Aldrich syndrome iPS Cells Rescues Proplatelet Defects and Improves Platelet Size.

Thrombosis and haemostasis
2024

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Journal of clinical immunology
2024

Actin polymerization counteracts prewetting of N-WASP on supported lipid bilayers.

Proceedings of the National Academy of Sciences of the United States of America
2024

X-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 practice
2024

Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children.

Journal of clinical immunology
2024

WAVE1 and WAVE2 facilitate human papillomavirus-driven actin polymerization during cellular entry.

bioRxiv : the preprint server for biology
2024

Wiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels.

Journal of autoimmunity
2024

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.

World journal of pediatrics : WJP
2024

Spatiotemporal coordination of actin regulators generates invasive protrusions in cell-cell fusion.

Nature cell biology
2024

Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.

Life (Basel, Switzerland)
2024

Long-term lineage commitment in haematopoietic stem cell gene therapy.

Nature
2024

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Allergologie select
2024

A human DCC variant causing mirror movement disorder reveals that the WAVE regulatory complex mediates axon guidance by netrin-1-DCC.

Science signaling
2024

Adaptor protein Abelson interactor 1 in homeostasis and disease.

Cell communication and signaling : CCS
2024

Scar/WAVE drives actin protrusions independently of its VCA domain using proline-rich domains.

Current biology : CB
2025

Multifaceted role of the actin-binding protein WIP: Promotor and inhibitor of tumor progression and dissemination.

Cytoskeleton (Hoboken, N.J.)
2024

Hematopoietic cell transplantation for inborn errors of immunity: an update on approaches, outcomes and innovations.

Current opinion in pediatrics
2024

Wiskott-Aldrich Syndrome: A Report of a Rare X-Linked Disorder.

Cureus
2024

Somatic reversion in Wiskott-Aldrich syndrome: Case reports and mechanistic insights.

Scandinavian journal of immunology
2024

Immunodeficiency: Gene therapy for primary immune deficiency.

Allergy and asthma proceedings
2024

Tviblindi algorithm identifies branching developmental trajectories of human B-cell development and describes abnormalities in RAG-1 and WAS patients.

European journal of immunology
2025

Effective management of acrodermatitis continua of Hallopeau with guselkumab in a Wiskott-Aldrich syndrome patient.

International journal of dermatology
2024

The Chlamydia pneumoniae effector SemD exploits its host's endocytic machinery by structural and functional mimicry.

Nature communications
2024

[Advances in gene therapy for inborn errors of immunity].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2024

Structural 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 America
2024

Normal 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 Immunology
2025

PSIP1 promotes gefitinib resistance in lung adenocarcinoma by inducing the expression of WASF3 and its downstream ITGB3/AKT signaling.

Clinical &amp; translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
2024

Interleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series.

Blood
2024

The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.

Immunogenetics
2025

Role of WAVE3 as an actin binding protein in the pathology of triple negative breast cancer.

Cytoskeleton (Hoboken, N.J.)
2024

Polyglutamine binding protein 1 regulates neurite outgrowth through recruiting N-WASP.

The Journal of biological chemistry
2024

Update on the Use of Thrombopoietin-Receptor Agonists in Pediatrics.

Hamostaseologie
2024

A first-in-class Wiskott-Aldrich syndrome protein activator with antitumor activity in hematologic cancers.

Haematologica
2024

Brucella NpeA is a secreted Type IV effector containing an N-WASP-binding short linear motif that promotes niche formation.

mBio
2024

Mechanisms of actin filament severing and elongation by formins.

Nature
2024

The 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 pharmacology
2024

Membrane curvature catalyzes actin nucleation through nano-scale condensation of N-WASP-FBP17.

bioRxiv : the preprint server for biology
2024

SOX4 induces cytoskeleton remodeling and promotes cell motility via N-wasp/ARP2/3 pathway in colorectal cancer cells.

Experimental cell research
2024

Actin-nucleation promoting factor N-WASP influences alpha-synuclein condensates and pathology.

Cell death &amp; disease
2024

It's all about location: Targeting the right spot for Wiskott-Aldrich syndrome.

Molecular therapy. Methods &amp; clinical development
2024

Vaccination against respiratory tract pathogens in primary immune deficiency patients receiving immunoglobulin replacement therapy.

Tuberkuloz ve toraks
2024

Pan-Cancer Proteomics Analysis Reveals Wiskott-Aldrich Syndrome Protein as a Potential Regulator of Programmed Death-Ligand 1.

Journal of proteome research
2024

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.

Pediatrics international : official journal of the Japan Pediatric Society
2024

Wiskott 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.)
2024

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.

Blood
2024

Neural Wiskott-Aldrich syndrome protein (N-WASP) promotes distant metastasis in pancreatic ductal adenocarcinoma via activation of LOXL2.

Oncology research
2024

IQGAP1 and NWASP promote human cancer cell dissemination and metastasis by regulating β1-integrin via FAK and MRTF/SRF.

Cell reports
2024

Wiskott-Aldrich syndrome protein expression in female WAS carriers: A flow cytometry study from North India.

Pediatric blood &amp; cancer
2024

The NADPH oxidase 2 subunit p47phox binds to the WAVE regulatory complex and p22phox in a mutually exclusive manner.

The Journal of biological chemistry
2024

Gene editing-based targeted integration for correction of Wiskott-Aldrich syndrome.

Molecular therapy. Methods &amp; clinical development
2024

Differential Diagnosis and Interdisciplinary Workup of a Pediatric Patient With an Unknown Immune Condition: Chronic Respiratory Distress Secondary to Viral Illness and Developmental Consequences.

Cureus
2024

A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family.

International journal of genomics
2024

HIV-1 Mediated Cortical Actin Disruption Mirrors ARP2/3 Defects Found in Primary T Cell Immunodeficiencies.

bioRxiv : the preprint server for biology
2024

Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene.

Intractable &amp; rare diseases research
2024

Differential Role of the RAC1-Binding Proteins FAM49b (CYRI-B) and CYFIP1 in Platelets.

Cells
2024

TRANSPARENT TESTA GLABRA2 defines trichome cell shape by modulating actin cytoskeleton in Arabidopsis thaliana.

Plant physiology
2024

IMD2, located near the boundary of heterochromatin regions, is regulated by multiple HAT-related factors.

Genes &amp; genetic systems
2024

Both 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 chemistry
2024

Controlled WASp activity regulates the proliferative response for Treg cell differentiation in the thymus.

European journal of immunology
2024

A mutation in F-actin polymerization factor suppresses the distal arthrogryposis type 5 PIEZO2 pathogenic variant in Caenorhabditis elegans.

Development (Cambridge, England)
2024

Mechanisms regulating the intracellular trafficking and release of CLN5 and CTSD.

Traffic (Copenhagen, Denmark)
2024

GTP-dependent regulation of heterochromatin fluctuations at subtelomeric regions in Saccharomyces cerevisiae.

Genes to cells : devoted to molecular &amp; cellular mechanisms
2023

WAVE2 Is a Vital Regulator in Myogenic Differentiation of Progenitor Cells through the Mechanosensitive MRTFA-SRF Axis.

Cells
2024

Allogeneic hematopoietic stem cell transplantation outcome in oldest known surviving patients with Wiskott-Aldrich syndrome.

The journal of allergy and clinical immunology. Global
2024

Inhibitory effects of estetrol on the invasion and migration of immortalized human endometrial stromal cells.

Endocrine journal
2023

Modulating Liquid-Liquid Phase Separation of Nck Adaptor Protein against Enteropathogenic Escherichia coli Infection.

ACS central science
2023

Association 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)
2024

Role of Wiskott Aldrich syndrome protein in haematological malignancies: genetics, molecular mechanisms and therapeutic strategies.

Pathology, research and practice
2023

Tuftelin1 drives experimental pulmonary fibrosis progression by facilitating stress fiber assembly.

Respiratory research
2024

Wiskott-Aldrich syndrome.

American journal of hematology
2024

Changes 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 lipids
2023

N-WASP-dependent branched actin polymerization attenuates B-cell receptor signaling by increasing the molecular density of receptor clusters.

eLife
2024

FAM21 interacts with Ku to promote the localization of WASH to DNA double strand break sites.

DNA repair
2023

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.

Frontiers in genetics
2023

WIPF1 promotes gastric cancer progression by regulating PI3K/Akt signaling in a myocardin-dependent manner.

iScience
2023

Unusual infection in a haploidentical transplant of Wiskott - Aldrich syndrome.

Medical journal, Armed Forces India
2023

Successful T replete haploidentical HSCT with post-transplant cyclophosphamide in two patients with Wiskott-Aldrich syndrome.

Medical journal, Armed Forces India
2024

LncRNA 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 sciences
2024

WAVE3 Facilitates the Tumorigenesis and Metastasis of Tongue Squamous Cell Carcinoma via EMT.

Applied biochemistry and biotechnology
2023

A single-cell atlas of immunocytes in the spleen of a mouse model of Wiskott-Aldrich syndrome.

Cellular immunology
2024

LINC00869 Promotes Hepatocellular Carcinoma Metastasis via Protrusion Formation.

Molecular cancer research : MCR
2024

B cell-mediated CD4 T-cell costimulation via CD86 exacerbates pro-inflammatory cytokine production during autoimmune intestinal inflammation.

Mucosal immunology
2023

Mechanism of synergistic activation of Arp2/3 complex by cortactin and WASP-family proteins.

Nature communications
2023

Wiskott-Aldrich syndrome diagnosed after cellulitis at the BCG vaccination site.

Pediatrics international : official journal of the Japan Pediatric Society
2023

WASP facilitates tumor mechanosensitivity in T lymphocytes.

bioRxiv : the preprint server for biology
2024

Estrogen receptors differentially modifies lamellipodial and focal adhesion dynamics in airway smooth muscle cell migration.

Molecular and cellular endocrinology
2023

The SH3 binding site in front of the WH1 domain contributes to the membrane binding of the BAR domain protein endophilin A2.

Journal of biochemistry
2023

Rare solid tumors in a patient with Wiskott-Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature.

Frontiers in immunology
2023

Conditional Knockout of N-WASP Enhanced the Formation of Keratinizing Squamous Cell Carcinoma Induced by KRasG12D.

Cancers
2023

Progress in the field of hematopoietic stem cell-based therapies for inborn errors of immunity.

Current opinion in pediatrics
2023

Case report: Allogeneic stem cell transplantation for type B insulin resistance.

Frontiers in medicine
2023

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.

Clinical immunology (Orlando, Fla.)
2023

The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures.

BMC medical genomics
2023

Facial Skin Lesions in a Boy With Wiskott-Aldrich Syndrome.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
2023

WASF3 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 America
2023

Myelin 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 Immunology
2023

Mutation in F-actin Polymerization Factor Suppresses Distal Arthrogryposis Type 5 (DA5) PIEZO2 Pathogenic Variant in Caenorhabditis elegans.

bioRxiv : the preprint server for biology
2023

Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.

Blood
2024

Haploidentical bone marrow transplantation in a pediatric patient with Wiskott-Aldrich syndrome. A case report.

Archivos argentinos de pediatria
2024

Severe eczema in Wiskott-Aldrich syndrome-related disorder successfully treated with dupilumab.

Pediatric dermatology
2023

Kawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications.

Diagnostics (Basel, Switzerland)
2023

Strumpellin/WASHC5 regulates the structural plasticity of cortical neurons involved in gait coordination.

Biochemical and biophysical research communications
2023

Differential analysis of immune reconstitution after allogeneic hematopoietic stem cell transplantation in children with Wiskott-Aldrich syndrome and chronic granulomatous disease.

Frontiers in immunology
2023

Whole-genome DNA methylation profiling reveals epigenetic signatures in developing muscle in Tan and Hu sheep and their offspring.

Frontiers in veterinary science
Ver todos os 1.192 no EuropePMC

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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.

  1. Nanoengineered 3D culture substrate enables superior persistence and polyclonal engraftment of genetically engineered hematopoietic stem cells.
    Cell stem cell· 2026· PMID 41512872mais citado
  2. Drosophila Abi maintains blood cell homeostasis by promoting clathrin-mediated endocytosis of Notch.
    The Journal of cell biology· 2026· PMID 41474627mais citado
  3. A nuclear-targeted activity-based sensing probe for ratiometric imaging of formaldehyde reveals endogenous epigenetic contributors to the nuclear formaldehyde pool.
    Chemical science· 2026· PMID 41383448mais citado
  4. Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
    Blood advances· 2026· PMID 41346295mais citado
  5. Author Correction: Wiskott-Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma.
    Nature medicine· 2026· PMID 41862708mais citado
  6. Pharmacological activation of WASp potentiates macrophage phagocytosis and enhances ibrutinib efficacy against mouse models of brain tumors.
    Sci Transl Med· 2026· PMID 41950303recente
  7. Congenital thrombopathies in southern Tunisia : A multicenter study.
    Tunis Med· 2025· PMID 41949971recente
  8. A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.
    Hum Mutat· 2026· PMID 41929524recente
  9. Identification of a novel nonsense mutation (c.1369 C > T) in the WAS gene in a neonate: a case report and literature review.
    BMC Pediatr· 2026· PMID 41928123recente
  10. HIV Nef-mediated WAVE2-ARP2/3 inhibition underlies CD4(+) T-cell lamellipodial abnormalities and immune dysfunction.
    mBio· 2026· PMID 41910361recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:906(Orphanet)
  2. OMIM OMIM:301000(OMIM)
  3. MONDO:0010518(MONDO)
  4. GARD:7895(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Síndrome Wiskott-Aldrich
Compêndio · Raras BR

Síndrome Wiskott-Aldrich

ORPHA:906 · MONDO:0010518
Prevalência
1-9 / 1 000 000
Herança
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
CID-10
D82.0 · Síndrome de Wiskott-Aldrich
CID-11
Ensaios
5 ativos
Início
Infancy, Neonatal
Prevalência
0.1 (Europe)
MedGen
UMLS
C0043194
EuropePMC
Wikidata
Wikipedia
Papers 10a
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