Results 11 to 20 of about 4,918 (154)

Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease [PDF]

Data in Brief, 2016
This paper describes the heterogeneous clinical phenotype of a cohort of nine patients diagnosed with heterozygous mutations in STAT1. We report data of extended immunophenotyping over time and we show lung damage in four patients.
Laura Dotta, Omar Scomodon, Rita Padoan, Silviana Timpano, Alessandro Plebani, Annarosa Soresina, Vassilios Lougaris, Daniela Concolino, Angela Nicoletti, Giuliana Giardino, Amelia Licari, Gianluigi Marseglia, Claudio Pignata, Nicola Tamassia, Fabio Facchetti, Donatella Vairo, Raffaele Badolato   +16 more
doaj   +2 more sources

Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report [PDF]

Dermatology Reports
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency condition caused by a genetic abnormality that increases the risk of recurrent and persistent skin, nail and mucous membrane infections with Candida species, typically Candida ...
Abdullah Alakeel , Khalid Nabil Nagshabandi, Abdulaziz Alsalhi   +2 more
doaj   +2 more sources

Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies [PDF]

Case Reports in Immunology, 2017
Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory ...
Sanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, Esra Isik, Guzide Aksu, Mélanie Migaud, Ferda Evin Gurkan, Elif Azarsiz, Anne Puel, Jean-Laurent Casanova, Necil Kutukculer   +10 more
doaj   +2 more sources

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis [PDF]

Journal of Clinical Immunology, 2021
Filipa Marujo, Simon Pelham, Jean-Laurent Casanova   +2 more
exaly   +2 more sources

Homozygosity for the Common IL23R R381Q Variant Associates with Increased Susceptibility to Chronic Mucocutaneous Candidiasis [PDF]

European Journal of Immunology
Margaux Gerbaux
exaly   +2 more sources

Chronic mucocutaneous candidiasis [PDF]

Postgraduate Medical Journal, 1979
Summary The pathogenesis of chronic mucocutaneous candidiasis is surveyed. Treatment comprises topical antifungal treatment which is insufficient, systemic antifungal treatment which is often followed by a rapid relapse, and specific immunotherapy with live tissue or transfer factor.
W.Mitchell Sams, Joseph L. Jorizzo, Ralph Snyderman, Brian V. Jegasothy, Frances E. Ward, Marc Weiner, James G. Wilson, William J. Yount, S.Booker Dillard   +8 more
openaire   +3 more sources

Mucocutaneous and cutaneous generalized candidiasis in a thymectomized dog

Medical Mycology Case Reports, 2022
Cutaneous candidiasis is usually related to immunosuppressive diseases and/or therapies as predisposing factors. In humans, chronic mucocutaneous candidiasis (CMC) is observed with thymoma and thymectomy.
Sara Muñoz Declara, Francesco Agnetti, Paola Roccabianca, Chiara Squassino, Federico Porporato, Giordana Zanna   +5 more
doaj   +1 more source

Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy

Frontiers in Pediatrics, 2022
BackgroundSignal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations are characterized by chronic mucocutaneous candidiasis and autoimmune diseases.
Bingyan Cao, Meijuan Liu, Yun Zhao, Chunxiu Gong   +3 more
doaj   +1 more source

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy [PDF]

Journal of Clinical Immunology, 2020
Kunihiko Moriya, Masao Kobayashi, Satoshi Okada   +2 more
exaly   +2 more sources

Chronic Mucocutaneous Candidiasis in Early Life: Insights Into Immune Mechanisms and Novel Targeted Therapies [PDF]

Frontiers in Immunology, 2020
Amit Nahum, Yuval Tal, Oded Shamriz
exaly   +2 more sources