Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort

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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Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Immunology
Subjects:
primary immunodeficiency
inborn errors of immunity
cardiofaciocutaneous syndrome
rasopathy
hypogammaglobulinemia
BRAF
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1598896/full
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