An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

No abstract is available for this paper.

• Publication year

  2013

• Venue

  Immunity

• Publication date

  2013-10-17

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.immuni.2013.09.002PMID 24120361PMCID PMC3873857
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

  2014cited by this paper
• Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

  2013cited by this paper
• Deep dermatophytosis and inherited CARD9 deficiency.

  2013cited by this paper
• Crystal Structure of IL-17 Receptor B SEFIR Domain

  2013cited by this paper
• Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

  2013cited by this paper
• Inherited IL-12p40 Deficiency

  2013cited by this paper
• Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

  2013cited by this paper
• Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis.

  2013cited by this paper
• The genetic theory of infectious diseases: a brief history and selected illustrations.

  2013cited by this paper
• Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

  2013cited by this paper
• Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival.

  2013cited by this paper
• Unravelling fungal immunity through primary immune deficiencies.

  2012cited by this paper
• Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency

  2012cited by this paper
• Orphan receptor IL-17RD tunes IL-17A signalling and is required for neutrophilia

  2012cited by this paper
• Psoriasis-associated variant Act1 D10N with impaired regulation by Hsp90

  2012cited by this paper
• Chronic Mucocutaneous Candidiasis Caused by a Gain-of-Function Mutation in the STAT1 DNA-Binding Domain

  2012cited by this paper
• Epithelial cell-specific Act1 adaptor mediates interleukin-25-dependent helminth expulsion through expansion of Lin(-)c-Kit(+) innate cell population.

  2012cited by this paper
• Autosomal-Dominant Chronic Mucocutaneous Candidiasis with STAT1-Mutation can be Complicated with Chronic Active Hepatitis and Hypothyroidism

  2012cited by this paper
• Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome: Molecular, Cellular, and Clinical Features From a French National Survey

  2012cited by this paper
• Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

  2012cited by this paper
• Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

  2012cited by this paper
• Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

  2011influential reference
• STAT1 Hyperphosphorylation and Defective IL12R/IL23R Signaling Underlie Defective Immunity in Autosomal Dominant Chronic Mucocutaneous Candidiasis

  2011cited by this paper
• Interleukin-17C promotes Th17 cell responses and autoimmune disease via interleukin-17 receptor E.

  2011cited by this paper
• Treatment with IL-17 prolongs the half-life of chemokine CXCL1 mRNA via the adaptor TRAF5 and the splicing-regulatory factor SF2 (ASF)

  2011cited by this paper
• IL-17RE is the functional receptor for IL-17C and mediates mucosal immunity to infection with intestinal pathogens

  2011cited by this paper
• Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

  2011cited by this paper
• IL-17C regulates the innate immune function of epithelial cells in an autocrine manner

  2011cited by this paper
• Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

  2011cited by this paper
• A CC′ Loop Decoy Peptide Blocks the Interaction Between Act1 and IL-17RA to Attenuate IL-17– and IL-25–Induced Inflammation

  2011cited by this paper
• STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

  2011cited by this paper
• Faculty Opinions recommendation of Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines.

  2010cited by this paper
• The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

  2010cited by this paper
• Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

  2010cited by this paper
• Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

  2010cited by this paper
• Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2

  2010cited by this paper
• Critical Role of IL-25 in Nematode Infection-Induced Alterations in Intestinal Function

  2010cited by this paper
• Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries

  2010cited by this paper
• Chronic mucocutaneous candidiasis and congenital susceptibility to Candida

  2010cited by this paper
• Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

  2010cited by this paper
• An Atopic Dermatitis-Like Skin Disease with Hyper-IgE-emia Develops in Mice Carrying a Spontaneous Recessive Point Mutation in the Traf3ip2 (Act1/CIKS) Gene

  2010cited by this paper
• Interleukin‐17 and its target genes: mechanisms of interleukin‐17 function in disease

  2010cited by this paper
• Life‐threatening infectious diseases of childhood: single‐gene inborn errors of immunity?

  2010cited by this paper
• Whole-exome-sequencing-based discovery of human FADD deficiency.

  2010cited by this paper
• Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

  2010cited by this paper
• The Adaptor Protein CIKS/Act1 Is Essential for IL-25-Mediated Allergic Airway Inflammation1

  2009cited by this paper
• The Sequence Alignment/Map format and SAMtools

  2009cited by this paper
• Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome

  2009cited by this paper
• IL-22-producing "T22" T cells account for upregulated IL-22 in atopic dermatitis despite reduced IL-17-producing TH17 T cells.

  2009cited by this paper
• A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

  2009cited by this paper
• Structure and signalling in the IL-17 receptor family

  2009cited by this paper
• Identification of Functional Roles for Both IL-17RB and IL-17RA in Mediating IL-25-Induced Activities

  2008influential reference
• Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3

  2008cited by this paper
• Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.

  2008cited by this paper
• Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

  2008cited by this paper
• Atopic dermatitis.

  2008cited by this paper
• Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

  2008cited by this paper
• Deficiency of Act1, a critical modulator of B cell function, leads to development of Sjögren's syndrome

  2008cited by this paper
• PLINK: a tool set for whole-genome association and population-based linkage analyses.

  2007cited by this paper
• Distinct functional motifs within the IL-17 receptor regulate signal transduction and target gene expression

  2007cited by this paper
• The adaptor Act1 is required for interleukin 17–dependent signaling associated with autoimmune and inflammatory disease

  2007influential reference
• Act1 Adaptor Protein Is an Immediate and Essential Signaling Component of Interleukin-17 Receptor*

  2006cited by this paper
• Identification of an interleukin (IL)-25–dependent cell population that provides IL-4, IL-5, and IL-13 at the onset of helminth expulsion

  2006cited by this paper
• Interleukin 25 regulates type 2 cytokine-dependent immunity and limits chronic inflammation in the gastrointestinal tract

  2006cited by this paper
• Act1, a negative regulator in CD40- and BAFF-mediated B cell survival.

  2004influential reference
• SIFT: predicting amino acid changes that affect protein function

  2003cited by this paper
• Role of the adaptor protein CIKS in the activation of the IKK complex.

  2003cited by this paper
• The STIR-domain superfamily in signal transduction, development and immunity.

  2003cited by this paper
• Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

  2002cited by this paper
• An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.

  2001cited by this paper
• Probiotics in primary prevention of atopic disease: a randomised placebo-controlled trial.

  2001cited by this paper
• A Novel Cytokine Receptor-Ligand Pair

  2000cited by this paper
• Aneurysm associated with chronic mucocutaneous candidiasis during long-term therapy with ketoconazole.

  1989cited by this paper
• Familial chronic muco-cutaneous candidiasis.

  1972cited by this paper
• Treatment of chronic mucocutaneous moniliasis by immunologic reconstitution.

  1971cited by this paper
• Chronic oral candidiasis (autosomal recessive inheritance) (three cases).

  1970cited by this paper
• Chronic Oral Candidiasis (Autosomal Recessive Inheritance) (Three Cases)

  1970cited by this paper
• CHRONIC HYPERPLASTIC CANDIDIASIS AND SQUAMOUS CARCINOMA

  1969cited by this paper
• Immunological observations in chronic mucocutaneous candidiasis.

  1969cited by this paper
• An attack of tetanus.

  1968cited by this paper
• BIOINFORMATICS ORIGINAL PAPER

  year unknowncited by this paper

• Oxytocin Modulates Microglial IL-17-Linked Inflammatory Pathways Through the IL-6/COX-2

  2026cites this paper
• Human immunity to fungal infections.

  2025cites this paper
• Invasive fungal infections in patients with liver disease: immunological and clinical considerations for the intensive care unit

  2025cites this paper
• Balancing IL-17-mediated protection and IFN-γ-driven pathology at mucocutaneous barriers.

  2025cites this paper
• Structural basis for ACT1 oligomerization induced by IL-17 receptor hetero-tetramer

  2025cites this paper
• Anti-cytokine autoantibodies in human susceptibility to infectious diseases: insights from Inborn errors of immunity

  2025cites this paper
• Cytosolic receptors and signaling in antifungal immunity

  2025cites this paper
• Genetic parameters and haplotype-based genome-wide association study of indicator traits for gastrointestinal parasite resistance in Santa Ines sheep.

  2025cites this paper
• Structural basis for ACT1 oligomerization induced by IL-17 receptor hetero-tetramer

  2025cites this paper
• Effects of Intranasal Antibodies on Murine Models of Neurological Disorders: A Systematic Review.

  2025cites this paper
• The emerging fungal pathogen Candida auris induces IFNγ to colonize mammalian hair follicles

  2025cites this paper
• Interleukin-17 A and diabetic kidney disease: emerging evidence on its pathogenic role and targeted modulation.

  2025cites this paper
• Chronic Mucocutaneous Candidiasis due to TRAF3IP2 Mutation in three Saudi patients – A case series and literature review

  2025cites this paper
• Antifungal immunity: advances in PRR recognition, adaptive responses, and immune-based therapies

  2025influential citation
• An estrogen-independent and IL-1-dependent pathway controls vulvovaginal candidiasis through combined IL-17/IL-22 signaling

  2025cites this paper
• Decoding Immunobiology Through Genetic Errors of Immunity.

  2025cites this paper
• Multiscale computational elucidation of Interleukin-17 receptor A-E3 ubiquitin ligase TRAF3IP2 signaling nexus: structural dynamics and hotspots for targeted autoimmune and anti-inflammatory therapeutics.

  2025cites this paper
• IL-17: A Critical Cytokine for Defense against Oral Candidiasis.

  2024cites this paper
• Integrated Analysis of Transcriptome Profiles and lncRNA–miRNA–mRNA Competing Endogenous RNA Regulatory Network to Identify Biological Functional Effects of Genes and Pathways Associated with Johne’s Disease in Dairy Cattle

  2024cites this paper
• Retrospective identification of the first cord blood–transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background

  2024cites this paper
• Epidermal barrier impairment predisposes for excessive growth of the allergy‐associated yeast Malassezia on murine skin

  2024cites this paper
• Candida albicans and Candida glabrata: global priority pathogens

  2024cites this paper
• Mucocutaneous Candidiasis: Insights Into the Diagnosis and Treatment

  2024cites this paper
• Candidiasi mucocutanea cronica: quando sospettarla, come diagnosticarla e trattarla

  2024cites this paper
• Evaluation of the Effect and Mechanism of Sanhuang Ointment on MRSA Infection in the Skin and Soft Tissue via Network Pharmacology

  2023cites this paper
• Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC

  2023cites this paper
• Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

  2023cites this paper
• IL-17: Balancing Protective Immunity and Pathogenesis

  2023cites this paper
• IκBζ is an essential mediator of immunity to oropharyngeal candidiasis.

  2023cites this paper
• Physiological roles of human interleukin‐17 family

  2023cites this paper
• Host defense mechanisms against Candida auris

  2023cites this paper
• Interleukin-17 as a key player in neuroimmunometabolism

  2023cites this paper
• Friend or Foe – Tc17 cell generation and current evidence for their importance in human disease

  2023cites this paper
• Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses

  2023cites this paper
• Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC

  2023cites this paper
• Exploiting antifungal immunity in the clinical context.

  2023cites this paper
• Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria

  2023cites this paper
• The Th17/IL-17 axis and host defence against fungal infections

  2023influential citation
• The IL-17 family in diseases: from bench to bedside

  2023cites this paper
• Immune responses to human fungal pathogens and therapeutic prospects

  2023cites this paper
• A Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections

  2023cites this paper
• Oral candidiasis and seborrheic dermatitis in an 8‐year‐old female with a heterozygous variant of the IL‐17RC gene

  2023cites this paper
• Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases

  2023cites this paper
• Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research

  2023cites this paper
• Long-term antibiotic exposure promotes mortality after systemic fungal infection by driving lymphocyte dysfunction and systemic escape of commensal bacteria.

  2022cites this paper
• Combined with network pharmacology to study the effect and mechanism of Sanhuang ointment on MRSA infection in the skin and soft tissue

  2022cites this paper
• Candida albicans oscillating UME6 expression during intestinal colonization primes systemic Th17 protective immunity

  2022cites this paper
• TRAF3IP2–IL-17 Axis Strengthens the Gingival Defense against Pathogens

  2022cites this paper
• Evaluation of the role of ACT1 gene polymorphism in seborrheic dermatitis: a case–control study

  2022cites this paper
• Organizing structural principles of the IL-17 ligand–receptor axis

  2022cites this paper
• CMTM4 is a subunit of the IL-17 receptor and mediates autoimmune pathology

  2022cites this paper
• Anti-cytokine autoantibodies and inborn errors of immunity.

  2022cites this paper
• A gut-oral microbiome–driven axis controls oropharyngeal candidiasis through retinoic acid

  2022cites this paper
• Mechanisms of Action of Ozone Therapy in Emerging Viral Diseases: Immunomodulatory Effects and Therapeutic Advantages With Reference to SARS-CoV-2

  2022cites this paper
• DOCK2 regulates antifungal immunity by regulating RAC GTPase activity

  2022cites this paper
• Chronic mucocutaneous candidiasis.

  2022cites this paper
• IL-17 and IL-17-producing cells in protection versus pathology

  2022cites this paper
• Main human inborn errors of immunity leading to fungal infections.

  2022cites this paper
• Epidermal clearance of Candida albicans is mediated by IL-17 but independent of fungal innate immune receptors.

  2022cites this paper
• Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  2021cites this paper
• Candidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?

  2021cites this paper
• Fungal diseases: Oral dysbiosis in susceptible hosts.

  2021cites this paper
• Regulation of IL-17A-Producing Cells in Skin Inflammatory Disorders.

  2021cites this paper
• Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.

  2021cites this paper
• Immunology of Fungal Infections.

  2021cites this paper
• Infections in the monogenic autoimmune syndrome APECED.

  2021cites this paper
• Phenocopies of Primary Immunodeficiency Diseases

  2021cites this paper
• Genetic Susceptibility to Fungal Infections and Links to Human Ancestry

  2021cites this paper
• TRAF3IP2 variants in a child with chronic mucocutaneous candidiasis- keeping an open mind!

  2021influential citation
• Primary immunodeficiency diseases

  2021cites this paper
• Targeting the Interleukin-23/Interleukin-17 Inflammatory Pathway: Successes and Failures in the Treatment of Axial Spondyloarthritis

  2021cites this paper
• Challenges and Opportunities in Understanding Genetics of Fungal Diseases: Towards a Functional Genomics Approach

  2021cites this paper
• A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

  2021cites this paper
• Eukaryotic Microorganisms are Part of Holobionts

  2021cites this paper
• Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant

  2021cites this paper
• Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches.

  2021cites this paper
• Act Locally, Act Globally—Microbiota, Barriers, and Cytokines in Atherosclerosis

  2021cites this paper
• Cutaneous Malassezia: Commensal, Pathogen, or Protector?

  2021cites this paper
• ACT1 is required for murine IL-23-induced psoriasiform inflammation potentially independent of E3 ligase activity.

  2021cites this paper
• Aberrant type 1 immunity drives susceptibility to mucosal fungal infections

  2021cites this paper
• Safety of secukinumab for the treatment of active ankylosing spondylitis

  2021cites this paper
• MYO1F regulates antifungal immunity by regulating acetylation of microtubules

  2021cites this paper
• Allosteric inhibition of SHP2 uncovers aberrant TLR7 trafficking in aggravating psoriasis

  2021cites this paper
• Prevalence of Candida species in Psoriasis

  2021cites this paper
• [Genetic predisposition to mucocutaneous fungal infections].

  2021cites this paper
• Oral Candida Infection in Psoriatic Patients Treated with IL17A Inhibitors: Report of 3 Cases and a Comprehensive Review of the Literature

  2021cites this paper
• A Novel IL17RA Mutation In A Male Child With Chronic Mucocutaneous Candidiasis

  2021cites this paper
• Pathogenesis and virulence of Candida albicans

  2021cites this paper
• Cytokine Regulation and Function in T Cells.

  2021cites this paper
• Candidose cutanéo-muqueuse chronique avec mutation gain-de-fonction du gène STAT1 associée à des infections herpétiques et à mycobactérie

  2020cites this paper
• Chronic Mucocutaneous Candidiasis, IL-17F Deficiency

  2020cites this paper
• Tissue-resident memory Th17 cells maintain stable fungal commensalism in the oral mucosa

  2020cites this paper
• Systematic analysis of the IL‐17 receptor signalosome reveals a robust regulatory feedback loop

  2020cites this paper
• Regulation of host-microbe interactions at oral mucosal barriers by type 17 immunity

  2020cites this paper
• Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

  2020cites this paper
• Chronic Mucocutaneous Candidiasis, ACT1 Deficiency

  2020cites this paper
• An IL-17F.S65L Knock-In Mouse Reveals Similarities and Differences in IL-17F Function in Oral Candidiasis: A New Tool to Understand IL-17F

  2020cites this paper
• Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis.

  2020cites this paper
• An Evidence-Based Update on the Molecular Mechanisms Underlying Periodontal Diseases

  2020cites this paper
• Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?

  2020cites this paper