Chronic mucocutaneous candidiasis (CMCC) is a heterogeneous group of disorders characterized by non-invasive persistent Candida species infections of the skin, nails, and mucous membranes. Heterozygous dominant gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) have been described as causing impaired STAT1 dephosphorylation, diminished IL-17- producing T-cell numbers, and CMCC (1, 2). Here, we report on the case of a 17-year-old boy who presented to our Department for CMCC. He was born preterm (36 weeks) to healthy non-consanguineous parents from Italy, by a pregnancy complicated by threatened miscarriage and gestosis. This article is protected by copyright. All rights reserved.
Novel STAT1 gain of function mutation and suppurative infections / Giardino, Giuliana; Somma, Domenico; Cirillo, Emilia; Ruggiero, Giuseppina; Terrazzano, Giuseppe; Rubino, Valentina; Ursini, Valeria; Vairo, Donatella; Badolato, Raffaele; Carsetti, Rita; Leonardi, Antonio; Puel, Anne; Pignata, Claudio. - In: PEDIATRIC ALLERGY AND IMMUNOLOGY. - ISSN 0905-6157. - 27:2(2016), pp. 220-223. [10.1111/pai.12496]
Novel STAT1 gain of function mutation and suppurative infections
GIARDINO, GIULIANA;SOMMA, DOMENICO;CIRILLO, EMILIA;RUGGIERO, GIUSEPPINA;TERRAZZANO, GIUSEPPE;RUBINO, VALENTINA;BADOLATO, RAFFAELE;CARSETTI, RITA;LEONARDI, ANTONIO;PIGNATA, CLAUDIO
2016
Abstract
Chronic mucocutaneous candidiasis (CMCC) is a heterogeneous group of disorders characterized by non-invasive persistent Candida species infections of the skin, nails, and mucous membranes. Heterozygous dominant gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) have been described as causing impaired STAT1 dephosphorylation, diminished IL-17- producing T-cell numbers, and CMCC (1, 2). Here, we report on the case of a 17-year-old boy who presented to our Department for CMCC. He was born preterm (36 weeks) to healthy non-consanguineous parents from Italy, by a pregnancy complicated by threatened miscarriage and gestosis. This article is protected by copyright. All rights reserved.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
