Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

ABSTRACT:

Introduction

Cardiofaciocutaneous 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 impairment, and epilepsy. Emerging evidence suggests an association with hypogammaglobulinemia, but a comprehensive characterization of immunological abnormalities in CFCS is lacking.

Methods

We conducted a retrospective, multicenter observational study to investigate the immunological phenotype of CFCS. Clinical features, immune-related manifestations, and laboratory parameters were analyzed to delineate the immunological profile of affected individuals.

Results

A total of 56 pati

SUBMITTER: Di Majo BE 

PROVIDER: S-EPMC12277328 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature