Donato Rigante

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...

A Mechanistic Framework for Somatic Mosaicism in Autoinflammatory Diseases Beyond Mendelian Inheritance

Hereditary autoinflammatory diseases have traditionally been defined as disorders caused by germline mutations in innate immune pathway genes transmitted through Mendelian inheritance, an assumption challenged by the discovery that postzygotic somatic mosaicism can reproduce simi...