NOD2 mosaicism in Blau syndrome

Gene mosaicism describes an individual who has developed from a single zygote and has two or more cell types with distinct genotypes. Three major types of mosaicism have been described and are referred as gonadal, somatic and gonosomic mosaicism. They mainly differ on the body distribution of the somatic mutation and in their clinical consequences. The recent use of next-generation sequencing technologies is revealing the relevant role of gene mosaicism in various diseases other than cancer, including monogenic autoinflammatory diseases such as cryopyrinopathies and STING-associated vasculopathy with onset in infancy [1-3].