Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing

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...

Full description

Saved in:
Bibliographic Details
Published in:Clinical reviews in allergy & immunology 2018-04, Vol.54 (2), p.261-268
Main Authors: Ameratunga, Rohan, Lehnert, Klaus, Woon, See-Tarn, Gillis, David, Bryant, Vanessa L., Slade, Charlotte A., Steele, Richard
Format: Article
Language:English
Subjects:
Allergology
B cells
Children
Common variable immunodeficiency
DNA sequencing
Genetic aspects
Genetic disorders
Genetic research
Genetics
Genomes
Genomics
Immunologic deficiency syndromes
Immunology
Internal Medicine
Medicine
Medicine & Public Health
Mutation
Primary immunodeficiencies
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1080-0549
1559-0267
DOI:10.1007/s12016-017-8645-0