Article
The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.
The journal of allergy and clinical immunology. In practice - 1 Jun 2023
Ameratunga Rohan, Edwards Emily S J, Lehnert Klaus, Leung Euphemia, Woon See-Tarn, Lea Edward, Allan Caroline, Chan Lydia, Steele Richard, Longhurst Hilary, Bryant Vanessa L
Abstract excerpt
The understanding of common variable immunodeficiency disorders (CVID) is in evolution. CVID was previously a diagnosis of exclusion. New diagnostic criteria have allowed the disorder to be identified with greater precision. With the advent of next-generation sequencing (NGS), it has become apparent that an increasing number of patients with a CVID phenotype have a causative genetic variant. If a pathogenic...
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