Article
Immunodeficiency and disorders of immune dysregulation.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Feb 2020
Delmonte Ottavia Maria
Abstract excerpt
The spectrum of clinical features associated with primary immune deficiency disorders (PIDs) has broadened due to the recent identification of many novel causative genes. Patients present with increased susceptibility to infections in addition to significant immune dysregulation, often leading to multiple autoimmunity, lymphoproliferation, and malignancy. Immunosuppressive treatment is often required but has to...
Topics
- Animals
- CTLA-4 Antigen
- Class I Phosphatidylinositol 3-Kinases
- Genetic Association Studies
- Genetic Therapy
- Humans
- Immunologic Deficiency Syndromes
- Mutation
- Precision Medicine
- Exome Sequencing