Cargando…

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C. albicans. Autosomal-recessive (AR) IL-17RA and ACT1 deficiencies and autosomal-dominant IL-17F deficiency, each reported in a si...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ling, Yun, Cypowyj, Sophie, Aytekin, Caner, Galicchio, Miguel, Camcioglu, Yildiz, Nepesov, Serdar, Ikinciogullari, Aydan, Dogu, Figen, Belkadi, Aziz, Levy, Romain, Migaud, Mélanie, Boisson, Bertrand, Bolze, Alexandre, Itan, Yuval, Goudin, Nicolas, Cottineau, Julien, Picard, Capucine, Abel, Laurent, Bustamante, Jacinta, Casanova, Jean-Laurent, Puel, Anne
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Rockefeller University Press 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419340/ https://www.ncbi.nlm.nih.gov/pubmed/25918342 http://dx.doi.org/10.1084/jem.20141065

Ejemplares similares

Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC
por: Noma, Kosuke, et al.
Publicado: (2023)

Regulatory T Cells and Vitamin D Status in Children with Chronic Autoimmune Thyroiditis
por: Şıklar, Zeynep, et al.
Publicado: (2016)

Multiple Presentations of LRBA Deficiency: a Single-Center Experience
por: Kostel Bal, Sevgi, et al.
Publicado: (2017)

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
por: Boisson-Dupuis, Stephanie, et al.
Publicado: (2012)

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
por: Liu, Luyan, et al.
Publicado: (2011)

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity
por: Okada, Satoshi, et al.
Publicado: (2016)

Eosinophilia and Increased Immunoglobulin E: Is It Really a Primary Immunodeficiency? A Diagnostic Challenge
por: Öztürk, Gökcan, et al.
Publicado: (2023)

Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties
por: Hacıhamdioğlu, Bülent, et al.
Publicado: (2011)

Disruption of an anti-mycobacterial circuit between dendritic and Th cells in human SPPL2a deficiency
por: Kong, Xiao-Fei, et al.
Publicado: (2018)

Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies
por: Eren Akarcan, Sanem, et al.
Publicado: (2017)

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
por: Soltész, Beáta, et al.
Publicado: (2013)

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing
por: Bigio, Benedetta, et al.
Publicado: (2021)

The seroprevalence of Kaposi's sarcoma associated herpes virus and human herpes virus-6 in pediatric patients with cancer and healthy children in a Turkish pediatric oncology center
por: Tacyildiz, Nurdan, et al.
Publicado: (2014)

Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?
por: Aygün, Fatma Deniz, et al.
Publicado: (2015)

Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association
por: Martinot, Martin, et al.
Publicado: (2021)

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1
por: Pedraza-Sánchez, Sigifredo, et al.
Publicado: (2017)

Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience
por: Haskoloğlu, Şule, et al.
Publicado: (2020)

Effects of Umbilical Cord Management Strategies on Stem Cell Transfusion, Delivery Room Adaptation, and Cerebral Oxygenation in Term and Late Preterm Infants
por: Okulu, Emel, et al.
Publicado: (2022)

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
por: Puel, Anne, et al.
Publicado: (2010)

Clinical and immunophenotypic characteristics of patients with chromosome 22q11.2 deletion syndrome: a single institution’s experience
por: Nepesov, Serdar, et al.
Publicado: (2019)

Impaired respiratory burst contributes to infections in PKCδ-deficient patients
por: Neehus, Anna-Lena, et al.
Publicado: (2021)

Chronic mucocutaneous candidiasis presenting as refractory fissured tongue in a patient with IL-17RC mutation: the first reported case of Chinese ethnicity
por: Xie, Yufei, et al.
Publicado: (2023)

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature
por: Gobin, Karina S., et al.
Publicado: (2018)

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature
por: Gobin, Karina, et al.
Publicado: (2017)

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
por: Scott, Eric M., et al.
Publicado: (2016)

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data
por: Zhang, Peng, et al.
Publicado: (2019)

Experimental and natural infections in MyD88‐ and IRAK‐4‐deficient mice and humans
por: von Bernuth, Horst, et al.
Publicado: (2012)

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
por: Boisson, Bertrand, et al.
Publicado: (2015)

Human autoantibodies underlying infectious diseases
por: Puel, Anne, et al.
Publicado: (2022)

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
por: Itan, Yuval, et al.
Publicado: (2014)

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations
por: Wang, Yi, et al.
Publicado: (2016)

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey
por: Boisson-Dupuis, Stéphanie, et al.
Publicado: (2011)

Mucocutaneous Lesions of Behçet's Disease
por: Alpsoy, Erkan, et al.
Publicado: (2007)

MUCOCUTANEOUS MANIFESTATIONS OF CHIKUNGUNYA FEVER
por: Bandyopadhyay, Debabrata, et al.
Publicado: (2010)

MUCOCUTANEOUS MANIFESTATIONS OF DENGUE FEVER
por: Thomas, Emy Abi, et al.
Publicado: (2010)

Nosocomial Dengue by Mucocutaneous Transmission
por: Chen, Lin H., et al.
Publicado: (2005)

Treatment Strategies for Mucocutaneous Leishmaniasis
por: Palumbo, Emilio
Publicado: (2010)

Mucocutaneous manifestations of Cowden's syndrome
por: Reddy, Kundoor Vinay Kumar, et al.
Publicado: (2016)

Mucocutaneous Manifestations of Behçet's Disease
por: Nakamura, Koichiro, et al.
Publicado: (2021)

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease
por: Kong, Xiao-Fei, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_uv1pkf5pme2djdb1r25i75tv8r