Results 61 to 70 of about 4,918 (154)

Exome sequencing reveals gain-of-function mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients

Revista Alergia México, 2018
Background: The transcription factor STAT1 plays a critical role in the immune response against mycobacterial, viral and fungal infections. Different mutations in STAT1 result in diverse clinical phenotypes: AR complete/partial biallelic mutations are ...
Marcela Moncada-Vélez, Lucía Victoria Erazo-Borrás, Jesús Armando Álvarez-lvarez, Carlos Andrés Arango, Miyuki Tsumura, Satoshi Okada, Sara Daniela Osorio, Lorena Castro, Natalia González, Catalina Arango, Julio César Orrego, Lina Riaño, Juan Fernando Alzate, Felipe Cabarcas, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco   +18 more
doaj  

Insights Into the Susceptibility of Fungal Infection and STAT3 Genetic Mutations

Mycoses, Volume 69, Issue 7, July 2026.
ABSTRACT Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor that regulates a spectrum of genes and signalling pathways critical for the antifungal immune response. Mutations in the STAT3 gene confer susceptibility to severe and recurrent fungal infections, predominantly via disruption of interleukin‐17 (IL‐17 ...
Fengming Li, Xiaodong Liu, Yuanyuan Li, Jie Wu, Ningning Dang, Jing Guo   +5 more
wiley   +1 more source

Ketoconazole in a case of chronic mucocutaneous candidiasis

Acta Dermato-Venereologica, 1982
An 8-year-old girl with chronic mucocutaneous candidiasis was treated with Ketoconazole 100 mg daily for 6 weeks. Oral thrush disappeared after a week, while cutaneous lesions cleared within a month. Her nail dystrophy disappeared during the following months. Repeated cultures were negative for Candida albicans.
H, Zachariae, G, Laurberg, K, Thestrup-Pedersen   +2 more
openaire   +2 more sources

Unsupervised Flow Cytometry Reveals a Constant Shift Towards Activated CD4+ T Cell Subsets in APECED

Scandinavian Journal of Immunology, Volume 104, Issue 1, July 2026.
APECED is caused by mutations of AIRE that impair negative selection in the human thymus. Using our optimized unsupervised workflow, we reveal that APECED patients show increased activation of T cells and alterations to their Treg pool as well as a novel T cell population not found among healthy controls.
Joonatan Mattila, Nelli Heikkilä, Iivo Hetemäki, Joonatan Borchers, Outi Mäkitie, Saila Laakso, T Petteri Arstila   +6 more
wiley   +1 more source

A novel case of chronic mucocutaneous candidiasis: Overlap between autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy syndrome and hyper IgE syndrome

Indian Journal of Paediatric Dermatology, 2018
Chronic mucocutaneous candidiasis (CMC) is a clinical entity where extensive fungal infection of skin, hair, nail, and mucosa with Candida sp. is seen. It has got association with several immunological and endocrinal dysfunctions.
Bauyelal Mahto, Payel Kundu, Aniruddha Ghosh, Sandipan Dhar   +3 more
doaj   +1 more source

Interleukin 17-Mediated Host Defense against Candida albicans

Pathogens, 2015
Candida albicans is part of the normal microbiota in most healthy individuals. However, it can cause opportunistic infections if host defenses are breached, with symptoms ranging from superficial lesions to severe systemic disease.
Florian Sparber, Salomé LeibundGut-Landmann   +1 more
doaj   +1 more source

Efficacy and Safety of Oral Icotrokinra in Moderate‐to‐Severe Plaque Psoriasis: A Systematic Review, Meta‐Analysis, and Trial Sequential Analysis

International Journal of Dermatology, Volume 65, Issue 6, Page 1144-1154, June 2026.
Meta‐analysis of randomized controlled trials demonstrates that oral icotrokinra significantly improves PASI responses in patients with moderate‐to‐severe plaque psoriasis, with early clinical benefit and a placebo‐comparable safety profile, supported by trial sequential analysis confirming robust and sufficient evidence.
Alhasan Altayf, Munder Lateiresh, Lutfiyah Marwan, Mohamed Yaseen Alfeetouri, Yassine Zouaoui, Muhammed Elhadi   +5 more
wiley   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, Volume 7, Issue 2, Page 242-246, May 2026.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Immune Dysregulation and Chronic Mucocutaneous Candidiasis in a Child With STAT1 Gain-of-function Mutation: A Case Report and Literature Review [PDF]

Journal of Pediatrics Review
Background: Chronic mucocutaneous candidiasis (CMC) is most commonly associated with gain-of-function (GOF) mutations in STAT1, which impair immune regulation and predispose to recurrent fungal infections, autoimmunity, and lymphoproliferative disorders.
Fateme Davari, Saber Mehdizadeh, Mirhamed Hoseini-Aghdam, Abbas Dabbaghzadeh   +3 more
doaj  

The Role of IL-17 in Protection against Mucosal Candida Infections

Journal of Fungi, 2017
Interleukin-17 (IL-17) is a proinflammatory cytokine produced by adaptive CD4+ T helper cells and innate lymphocytes, such as γδ-T cells and TCRβ+ “natural” Th17 cells.
Bemnet G. Mengesha, Heather R. Conti
doaj   +1 more source