Our research unit (INSERM / Sorbonne University), in close connection with the molecular diagnostic activity of the hospital laboratory (AP-HP / Sorbonne University), is dedicated to the study of the physiopathology of three groups of human diseases with a genetic component: pulmonary diseases, auto-inflammatory diseases and developmental diseases. For all these diseases, cohorts of patients, exceptional both in size and phenotypic characterization, have been formed over the years. We combine genetic analyses and different molecular and cellular biology approaches to characterize the molecular and cellular bases of these diseases, which are still incompletely understood in the majority of these patients.