The role of genomics in common variable immunodeficiency disorders

Clinical and Experimental Immunology
A-K KienzlerSmita Y Patel


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 precision medicine. Primary immunodeficiencies (PID) are a group of rare diseases which have benefited from NGS, with a massive increase in causative genes identified in the past few years. Common variable immunodeficiency disorders (CVID) are a heterogeneous form of PID and the most common form of antibody failure in children and adults. While a monogenic cause of disease has been identified in a small subset of CVID patients, a genomewide association study and whole genome sequencing have found that, in the majority, a polygenic cause is likely. Other NGS technologies such as RNA sequencing and epigenetic studies have contributed further to our understanding of the contribution of altered gene expression in CVID pathogenesis. We believe that to unravel further the complexities of CVID, a multi-omic approach, combining DNA sequencing with gene expression, methylation, proteomic and metabolomics data, will be essential to identify novel disease-associated pathways and therapeutic targets.


Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·F SangerA R Coulson
Jul 1, 1968·Proceedings of the National Academy of Sciences of the United States of America·R M KaminS D Douglas
Jun 18, 1998·Cell·A VillaE Spanopoulou
Feb 11, 2003·Nature Immunology·Bodo GrimbacherHans H Peter
Oct 22, 2004·Nature·International Human Genome Sequencing Consortium
May 5, 2006·The New England Journal of Medicine·Menno C van ZelmJose Luis Franco
Nov 6, 2007·Nature Genetics·Emily HodgesW Richard McCombie
Aug 12, 2009·Proceedings of the National Academy of Sciences of the United States of America·Klaus WarnatzHermann Eibel
Dec 30, 2009·The Journal of Clinical Investigation·Taco W KuijpersRené A W van Lier
Mar 20, 2010·The Journal of Clinical Investigation·Menno C van ZelmMirjam van der Burg
Apr 19, 2011·The Journal of Allergy and Clinical Immunology·Jordan S OrangeHakon Hakonarson
Jul 6, 2011·The Journal of Experimental Medicine·Luyan LiuJean-Laurent Casanova
Jul 29, 2011·Nature·Feng-Yen LiMichael J Lenardo
Sep 17, 2011·Genome Biology·Jay Shendure
Oct 1, 2011·Genome Biology·Anna-Maija SulonenJanna Saarela
Nov 1, 2011·The Journal of Allergy and Clinical Immunology·Jens ThielMichael Schlesier
Jan 17, 2012·American Journal of Human Genetics·Peter M VisscherJian Yang
Feb 4, 2012·Annals of the New York Academy of Sciences·Ulrich SalzerKlaus Warnatz
Oct 3, 2012·Current Opinion in Allergy and Clinical Immunology·Elena Resnick, Charlotte Cunningham-Rundles
Nov 7, 2012·Nature·Goncalo R AbecasisGil A McVean
Nov 10, 2012·Nature Biotechnology·Jay Shendure, Erez Lieberman Aiden
Dec 4, 2012·Nature Immunology·Nadia R CohenImmGen Project Consortium
Mar 8, 2013·The Journal of Allergy and Clinical Immunology·Anne-Kathrin KienzlerHermann Eibel
Sep 27, 2013·PloS One·Joon ParkCharlotte Cunningham-Rundles
Oct 22, 2013·The Journal of Allergy and Clinical Immunology·Isaac J NijmanMariëlle E van Gijn
Dec 18, 2013·Clinical and Experimental Immunology·M KellerHakon Hakonarson
Jan 18, 2014·Nature Reviews. Genetics·David SimsChris P Ponting
Jun 19, 2014·The New England Journal of Medicine·Leslie G Biesecker, Robert C Green
Feb 14, 2015·The Journal of Allergy and Clinical Immunology·S Melkorka MaggadottirHakon Hakonarson
Jul 1, 2015·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Pauline A van SchouwenburgSmita Y Patel
Oct 9, 2015·Journal of Clinical Immunology·Aziz BousfihaMimi L K Tang


May 10, 2017·Clinical and Experimental Immunology·J P Hodkinson, H Chapel
Sep 23, 2017·Current Opinion in Allergy and Clinical Immunology·Giorgia BucciolIsabelle Meyts
Oct 17, 2017·Clinical Reviews in Allergy & Immunology·Rohan AmeratungaRichard Steele
Jan 14, 2019·Annals of the Rheumatic Diseases·Frank A Wollheim
Jul 3, 2019·Scientific Reports·Magnhild E MacphersonSilje F Jørgensen
Apr 30, 2020·Immunology and Cell Biology·Elissa K DeenickAlisa Kane
Aug 28, 2018·Frontiers in Immunology·Ulrich BaumannStephen Jolles
Aug 15, 2017·Gene Therapy·F Carrasco-RamiroB Aguado
Oct 27, 2018·BioMed Research International·Ran LiZhancheng Gao
Jul 30, 2019·Frontiers in Cell and Developmental Biology·Jorge Martínez-CanoCésar Cobaleda
Mar 19, 2020·Frontiers in Immunology·Antonio PecoraroGiuseppe Spadaro
Jun 6, 2018·Frontiers in Immunology·Guillem de Valles-IbáñezFerran Casals
Mar 8, 2019·JCI Insight·Paul J MaglioneCharlotte Cunningham-Rundles
Oct 9, 2019·Expert Review of Clinical Immunology·Mohammad GhorbaniAsghar Aghamohammadi
Mar 14, 2019·Frontiers in Genetics·Jerzy KotlinowskiJolanta Jura
Feb 11, 2020·Frontiers in Immunology·Hassan AbolhassaniLennart Hammarström
Dec 6, 2019·Frontiers in Immunology·Claudia SchröderFaranaz Atschekzei
Feb 9, 2021·The Journal of Allergy and Clinical Immunology. in Practice·Roshini S Abraham, Manish J Butte
Mar 16, 2021·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Theodore K LeePaul J Maglione
May 19, 2021·Journal of Clinical Immunology·Chantal E HargreavesSmita Y Patel

Related Concepts

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.

Glut1 Deficiency

Glut1 deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Follow the latest research on Glut1 deficiency with this feed.

Hereditary Sensory Autonomic Neuropathy

Hereditary Sensory Autonomic Neuropathies are a group of inherited neurodegenerative disorders characterized clinically by loss of sensation and autonomic dysfunction. Here is the latest research on these neuropathies.

Separation Anxiety

Separation anxiety is a type of anxiety disorder that involves excessive distress and anxiety with separation. This may include separation from places or people to which they have a strong emotional connection with. It often affects children more than adults. Here is the latest research on separation anxiety.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

© 2021 Meta ULC. All rights reserved