Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

ABSTRACT: Predominantly antibody deficiency (PAD) is the most prevalent form of primary immunodeficiency, and is characterized by broad clinical, immunological and genetic heterogeneity. Utilizing the current gold standard of whole exome sequencing for diagnosis, pathogenic gene variants are only identified in less than 20% of patients. While elucidation of the causal genes underlying PAD has provided many insights into the cellular and molecular mechanisms underpinning disease pathogenesis, many other genes may remain as yet undefined to enable definitive diagnosis, prognostic monitoring and targeted therapy of patients. Considering that many patients display a relatively late onset of disease presentation in their 2^nd or 3^rd decade of life, it is questionable whether a single

SUBMITTER: Edwards ESJ 

PROVIDER: S-EPMC8027216 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature