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Perspective: Evolving Concepts in the Diagnosis and Understanding of Common Variable Immunodeficiency Disorders (CVID).

Authors
  • Ameratunga, Rohan1, 2, 3
  • Woon, See-Tarn4
  • 1 Department of Virology and Immunology, Auckland City Hospital, Auckland, 1010, New Zealand. [email protected] , (New Zealand)
  • 2 Department of Clinical Immunology, Auckland City Hospital, Auckland, 1010, New Zealand. [email protected] , (New Zealand)
  • 3 Department of Molecular Medicine and Pathology, Faculty of Medicine and Health Sciences, University of Auckland, Auckland, New Zealand. [email protected] , (New Zealand)
  • 4 Department of Clinical Immunology, Auckland City Hospital, Auckland, 1010, New Zealand. , (New Zealand)
Type
Published Article
Journal
Clinical Reviews in Allergy & Immunology
Publisher
Springer-Verlag
Publication Date
Nov 13, 2019
Identifiers
DOI: 10.1007/s12016-019-08765-6
PMID: 31720921
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Common variable immunodeficiency disorders (CVID) are the most frequent symptomatic primary immune deficiency in adults. At this time, the causes of these conditions are unknown. Patients with CVID experience immune system failure consequent to late onset antibody failure. They have increased susceptibility to infections and are also at risk of severe autoimmune and inflammatory disorders as a result of immune dysregulation. An increasing number of monogenic causes as well as a digenic disorder have been described in patients with a CVID phenotype. If a causative mutation is identified, patients are removed from the umbrella diagnosis of CVID and are reclassified as having a CVID-like disorder, resulting from a specific mutation. In non-consanguineous populations, next-generation sequencing (NGS) identifies a genetic cause in approximately 25% of patients with a CVID phenotype. It is six years since we published our diagnostic criteria for CVID. There is ongoing debate about diagnostic criteria, the role of vaccine responses and genetic analysis in the diagnosis of CVID. There have been several recent studies, which have addressed some of these uncertainties. Here we review this new evidence from the perspective of our CVID diagnostic criteria and speculate on future approaches, which may assist in identifying and assessing this group of enigmatic disorders.

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