Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing
- Author(s)
- Ameratunga, R; Lehnert, K; Woon, ST; Gillis, D; Bryant, VL; Slade, CA; Steele, R;
- Details
- Publication Year 2018-04,Volume 54,Issue #2,Page 261-268
- Journal Title
- Clinical Reviews in Allergy & Immunology
- Publication Type
- Journal Article
- Abstract
- Common variable immunodeficiency disorders (CVID) are an enigmatic group of often heritable conditions, which may manifest for the first time in early childhood or as late as the eighth decade of life. In the last 5 years, next generation sequencing (NGS) has revolutionised identification of genetic disorders. However, despite the best efforts of researchers around the globe, CVID conditions have been slow to yield their molecular secrets. We have previously described the many clinical advantages of identifying the genetic basis of primary immunodeficiency disorders (PIDs). In a minority of CVID patients, monogenic defects have now been identified. If a causative mutation is identified, these conditions are reclassified as CVID-like disorders. Here we discuss recent advances in the genetics of CVID and discuss how NGS can be optimally deployed to identify the causal mutations responsible for the protean clinical manifestations of these conditions. Diagnostic criteria such as the Ameratunga et al. criteria will continue to play an important role in patient management as well as case selection and sequencing strategy design until the genetic conundrum of CVID is solved.
- Keywords
- Immunodeficiency disorders ; Whole Genome Sequencing
- Research Division(s)
- Immunology
- PubMed ID
- 29030829
- Publisher's Version
- https://doi.org/10.1007/s12016-017-8645-0
- NHMRC Grants
- NHMRC/1075666, NHMRC/1054925,
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2017-11-16 04:56:02
Last Modified: 2018-11-20 09:26:00