[Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease].

Background: The X-linked form of chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and is characterized by an increased susceptibility to severe bacterial and fungal infections. It is caused by mutations in the CYBB gene, which encodes the 91-kD subunit of phagocyte NADPH oxidase.

Aim: To identify the mutation in the CYBB gene in two unrelated patients from Chile with the diagnosis of X-linked CGD and their families.

[Clinical and molecular genetic study of cystic fibrosis in the 5th Region of Chile].

Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian population. More than 900 mutations have been detected in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. The most common worldwide, is a deletion of phenylalanine 508 (delta F508).