Roberta Onesimo

Lung disease in crisponi/cold-induced sweating syndrome type 1: expanding the clinical phenotype spectrum

Crisponi/Cold-Induced Sweating Syndrome Type 1 (CS/CISS1) is an ultra-rare genetic disorder caused by biallelic variants in the cytokine receptor-like factor-1 (CRLF1) gene and is associated with several comorbidities. Comprehensive data on the respiratory phenotype of this condi...