Affordable Access

Access to the full text

Genetics of Pediatric Immune-Mediated Diseases and Human Immunity

Authors
  • Schmitt, Erica G.
  • Cooper, Megan A.
Type
Published Article
Journal
Annual Review of Immunology
Publisher
Annual Reviews
Publication Date
Apr 26, 2021
Volume
39
Pages
227–249
Identifiers
DOI: 10.1146/annurev-immunol-093019-124513
Source
Annual Reviews
Keywords
License
Yellow

Abstract

Primary immunodeficiency diseases (PIDs) are a rapidly growing, heterogeneous group of genetically determined diseases characterized by defects in the immune system. While individually rare, collectively PIDs affect between 1/1,000 and 1/5,000 people worldwide. The clinical manifestations of PIDs vary from susceptibility to infections to autoimmunity and bone marrow failure. Our understanding of the human immune response has advanced by investigation and discovery of genetic mechanisms of PIDs. Studying patients with isolated genetic variants in proteins that participate in complex signaling pathways has led to an enhanced understanding of host response to infection, and mechanisms of autoimmunity and autoinflammation. Identifying genetic mechanisms of PIDs not only furthers immunological knowledge but also benefits patients by dictating targeted therapies or hematopoietic stem cell transplantation. Here, we highlight several of these areas in the field of primary immunodeficiency, with a focus on the most recent advances.

Report this publication

Statistics

Seen <100 times