[HTML][HTML] Recent advances in elucidating the genetics of common variable immunodeficiency

V Aggarwal, AZ Banday, AK Jindal, J Das, A Rawat - Genes & diseases, 2020 - Elsevier
Common variable immunodeficiency disorders (CVID), a heterogeneous group of inborn
errors of immunity, is the most common symptomatic primary immunodeficiency disorder …

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 …

[HTML][HTML] Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation

SF Jørgensen, M Trøseid, M Kummen… - Mucosal …, 2016 - Elsevier
Common variable immunodeficiency (CVID) is the most common symptomatic primary
immunodeficiency characterized by low immunoglobulin (Ig) G and IgA, and/or IgM. In …

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder

MD Keller, R Pandey, D Li, J Glessner, L Tian… - Journal of Allergy and …, 2016 - Elsevier
Background Genome-wide association studies have shown a pattern of rare copy number
variations and single nucleotide polymorphisms in patients with common variable …

[HTML][HTML] Identification of novel genetic variants in CVID patients with autoimmunity, autoinflammation, or malignancy

M Christiansen, R Offersen, JMB Jensen… - Frontiers in …, 2020 - frontiersin.org
Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by
recurrent bacterial infections and defined by reduced levels of IgG, IgA, and/or IgM …

Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency

ESJ Edwards, JJ Bosco, S Ojaimi, RE O'Hehir… - Cellular & Molecular …, 2021 - nature.com
Predominantly antibody deficiency (PAD) is the most prevalent form of primary
immunodeficiency, and is characterized by broad clinical, immunological and genetic …

Vibrational spectroscopy and multivariate analysis techniques in the clinical immunology laboratory: a review of current applications and requirements for diagnostic …

EL Callery, AW Rowbottom - Applied Spectroscopy Reviews, 2022 - Taylor & Francis
Laboratory tests are essential for clinicians to reach an accurate diagnosis and informing
appropriate treatments. The expansion in the use of immunotherapies has highlighted the …

Immunity and ultrasonic vocalization in rodents

J Jouda, M Wöhr, A Del Rey - … of the New York Academy of …, 2019 - Wiley Online Library
Ultrasonic vocalizations (USVs) serve important communicative functions in rodents.
Different types of USVs can be triggered in the sender, for example, by maternal separation …

Indications to epigenetic dysfunction in the pathogenesis of common variable immunodeficiency

W Rae - Archivum immunologiae et therapiae experimentalis, 2017 - Springer
Primary immunodeficiencies (PIDs) are a group of rare genetic diseases resulting in the
impairment of one or more functions of the human immune system. Common variable …

[HTML][HTML] Disentangling archaic introgression and genomic signatures of selection at human immunity genes

A Urnikyte, A Masiulyte, L Pranckeniene… - Infection, Genetics and …, 2023 - Elsevier
Pathogens and infectious diseases have imposed exceptionally strong selective pressure
on ancient and modern human genomes and contributed to the current variation in many …