Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort

IntroductionCardiofaciocutaneous syndrome (CFCS) is a rare syndromic disorder caused by germline mutations affecting the RAS/MAPK pathway. It is characterized by distinctive craniofacial dysmorphism, congenital heart defects, skin abnormalities, gastrointestinal dysfunction, neurocognitive impairmen...

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Huvudupphovsmän:	Benedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, Chiara Fossati, Germana Viscogliosi, Valentina Trevisan, Lucia Pia Bruno, Francesca Conti, Mattia Moratti, Emilia Monaco, Donato Rigante, Beatrice Rivalta, Caterina Cancrini, Aleksandra Szczawińska-Popłonyk, Aleksander Jamsheer, Monika Obara-Moszyńska, Viktoria Zakharova, Anna Shcherbina, Julija Rodina, Beyhan Tüysüz, Saumya Shekhar Jamuar, Jiin Ying Lim, Jeannette Goh, Anna Cereda, Teresa Agovino, Ilaria Contaldo, Maria Luigia Gambardella, Adriana Cristina Balduzzi, Alessia Cherubino, Giovanni Antonio Marrocco, Silvia Bellesi, Valentina Carusi, Gabriele Rumi, Andrea Biondi, Giuseppe Zampino, Francesco Saettini
Materialtyp:	Artikel
Språk:	engelska
Publicerad:	Frontiers Media S.A. 2025-07-01
Serie:	Frontiers in Immunology
Ämnen:	primary immunodeficiency inborn errors of immunity cardiofaciocutaneous syndrome rasopathy hypogammaglobulinemia BRAF
Länkar:	https://www.frontiersin.org/articles/10.3389/fimmu.2025.1598896/full
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Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort

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