Perspective: application of the American College of Medical Genetics variant interpretation criteria to common variable immunodeficiency disorders

R Ameratunga, C Allan, K Lehnert, ST Woon - Clinical reviews in allergy & …, 2021 - Springer
Common variable immunodeficiency disorders (CVIDs) are rare primary immunodeficiency
diseases (PIDs) mostly associated with late onset antibody failure leading to immune system …

Perspective: evolving concepts in the diagnosis and understanding of common variable immunodeficiency disorders (CVID)

R Ameratunga, ST Woon - Clinical reviews in allergy & immunology, 2020 - Springer
Common variable immunodeficiency disorders (CVID) are the most frequent symptomatic
primary immune deficiency in adults. At this time, the causes of these conditions are …

The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency–Like Disorders

R Ameratunga, ESJ Edwards, K Lehnert… - The Journal of Allergy …, 2023 - Elsevier
The understanding of common variable immunodeficiency disorders (CVID) is in evolution.
CVID was previously a diagnosis of exclusion. New diagnostic criteria have allowed the …

diagnosing common variable immunodeficiency disorder in the era of genome sequencing

R Ameratunga, K Lehnert, ST Woon, D Gillis… - Clinical reviews in …, 2018 - Springer
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 …

All patients with common variable immunodeficiency disorders (CVID) should be routinely offered diagnostic genetic testing

R Ameratunga, K Lehnert, ST Woon - Frontiers in Immunology, 2019 - frontiersin.org
Common Variable Immunodeficiency Disorders (CVID) are a rare group of primary
immunodeficiency disorders (PIDs) where late onset antibody failure leads to immune …

Genetics and clinical phenotypes in common variable immunodeficiency

C Cunningham-Rundles, JL Casanova… - Frontiers in …, 2024 - frontiersin.org
Common variable immunodeficiency (CVID) is one of the most common symptomatic groups
of inborn errors of immunity. In addition to infections resulting from insufficient levels of …

The variable in common variable immunodeficiency: a disease of complex phenotypes

S Jolles - The Journal of Allergy and Clinical Immunology: In …, 2013 - Elsevier
Common variable immunodeficiency (CVID) is the most common and clinically most
important severe primary antibody deficiency and is characterized by low levels of IgG, IgA …

Common variable immunodeficiency with genetic defects identified by whole exome sequencing

R Li, Y Zheng, Y Li, R Zhang, F Wang… - BioMed research …, 2018 - Wiley Online Library
Common variable immunodeficiency (CVID) belongs to the primary immunodeficiency
disorders (PIDs), presenting a profound heterogeneity in phenotype and genotype, with …

Assessing disease severity in common variable immunodeficiency disorders (CVID) and CVID-like disorders

R Ameratunga - Frontiers in immunology, 2018 - frontiersin.org
Common Variable Immunodeficiency Disorders (CVID) are the most frequent symptomatic
primary immune deficiency (PID) in adults. Current estimates suggest a prevalence of∼ 1 …

The role of genomics in common variable immunodeficiency disorders

AK Kienzler, CE Hargreaves… - Clinical & Experimental …, 2017 - academic.oup.com
The advent of next-generation sequencing (NGS) and 'omic'technologies has revolutionized
the field of genetics, and its implementation in health care has the potential to realize …