Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.

ABSTRACT: Primary immunodeficiencies (PIDs) are a large and growing group of disorders commonly associated with recurrent infections. However, nowadays, we know that PIDs often carry with them consequences related to organ or hematologic autoimmunity, autoinflammation, and lymphoproliferation in addition to simple susceptibility to pathogens. Alongside this conceptual development, there has been technical advancement, given by the new but already established diagnostic possibilities offered by new genetic testing (e.g., next-generation sequencing). Nevertheless, there is also the need to understand the large number of gene variants detected with these powerful methods. That means advancing beyond genetic results and resorting to the clinical phenotype and to immunological or alternative molecular te

SUBMITTER: Rispoli F 

PROVIDER: S-EPMC8002250 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature