Genetics in a Danish Common Variable Immunodeficiency Cohort

Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42:1508–20.

PubMed  Google Scholar 

Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, et al. International consensus document (ICON): common variable immunodeficiency disorders. J Allergy Clin Immunol Pract. 2016;4:38–59.

PubMed  Google Scholar 

Katzenstein TL, Rasmussen LD, Drabe CH, Larsen CS, Hansen A-BE, Stærkind M, et al. Outcome of SARS-CoV-2 infection among patients with common variable immunodeficiency and a matched control group: a Danish nationwide cohort study. Front Immunol. 2022;13:994253.

CAS  PubMed  PubMed Central  Google Scholar 

Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, et al. The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract. 2019;7:1763–70.

PubMed  Google Scholar 

Westh L, Mogensen TH, Dalgaard LS, Jensen JMB, Katzenstein T, Hansen A-BE, et al. Identification and characterization of a nationwide Danish adult common variable immunodeficiency cohort. Scand J Immunol. 2017;85:450–61.

CAS  PubMed  Google Scholar 

Franzblau LE, Fuleihan RL, Cunningham-Rundles C, Wysocki CA. CVID-associated intestinal disorders in the USIDNET registry: an analysis of disease manifestations, functional status, comorbidities, and treatment. Res Sq. 2023;rs.3.rs-2838051.

Gathmann B, Mahlaoui N, Gérard L, Oksenhendler E, Warnatz K, Schulze I, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134:116–e12611.

PubMed  Google Scholar 

Janssen LMA, van der Flier M, de Vries E. Lessons learned from the clinical presentation of common variable immunodeficiency disorders: a systematic review and meta-analysis. Front Immunol. 2021;12:620709.

CAS  PubMed  PubMed Central  Google Scholar 

Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119:1650–7.

CAS  PubMed  PubMed Central  Google Scholar 

Verhoeven D, Stoppelenburg AJ, Meyer-Wentrup F, Boes M. Increased risk of hematologic malignancies in primary immunodeficiency disorders: opportunities for immunotherapy. Clin Immunol Orlando Fla. 2018;190:22–31.

CAS  Google Scholar 

Ameratunga R, Edwards ESJ, Lehnert K, Leung E, Woon S-T, Lea E et al. The rapidly expanding genetic spectrum of common variable immunodeficiency-like disorders. J Allergy Clin Immunol Pract.2023;11:1646–64.

Rojas-Restrepo J, Caballero-Oteyza A, Huebscher K, Haberstroh H, Fliegauf M, Keller B, et al. Establishing the molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: experience from a monocentric study. Front Immunol. 2021;12:786516.

CAS  PubMed  PubMed Central  Google Scholar 

Aygun A, Topyıldız E, Geyik M, Karaca NE, Durmaz A, Aksu G, et al. Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience. Immunol Res. 2024;72:225–33.

PubMed  Google Scholar 

Bisgin A, Sonmezler O, Boga I, Yilmaz M. The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID). Sci Rep. 2021;11:8308.

CAS  PubMed  PubMed Central  Google Scholar 

Pan-Hammarström Q, Salzer U, Du L, Björkander J, Cunningham-Rundles C, Nelson DL, et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet. 2007;39:429–30.

PubMed  PubMed Central  Google Scholar 

Salzer U, Grimbacher B. TACI deficiency - a complex system out of balance. Curr Opin Immunol. 2021;71:81–8.

CAS  PubMed  Google Scholar 

Christiansen M, Offersen R, Jensen JMB, Petersen MS, Larsen CS, Mogensen TH. Identification of novel genetic variants in CVID patients with autoimmunity, autoinflammation, or malignancy. Front Immunol. 2019;10:3022.

CAS  PubMed  Google Scholar 

Maffucci P, Filion CA, Boisson B, Itan Y, Shang L, Casanova J-L et al. Genetic diagnosis using whole exome sequencing in common variable immunodeficiency. Front Immunol. 2016;7:220.

Kermode W, De Santis D, Truong L, Della Mina E, Salman S, Thompson G, et al. A novel targeted amplicon next-generation sequencing gene panel for the diagnosis of common variable immunodeficiency has a high diagnostic yield: results from the Perth CVID cohort study. J Mol Diagn JMD. 2022;24:586–99.

CAS  PubMed  Google Scholar 

Abolhassani H, Hammarström L, Cunningham-Rundles C. Current genetic landscape in common variable immune deficiency. Blood. 2020;135:656–67.

PubMed  PubMed Central  Google Scholar 

Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, et al. Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing. J Allergy Clin Immunol. 2021;147:734–7.

CAS  PubMed  Google Scholar 

Romberg N, Le Coz C. Common variable immunodeficiency, cross currents, and prevailing winds. Immunol Rev. 2024;322:233–43.

CAS  PubMed  Google Scholar 

Cunningham-Rundles C, Casanova J-L, Boisson B. Genetics and clinical phenotypes in common variable immunodeficiency. Front Genet. 2023;14:1272912.

CAS  PubMed  Google Scholar 

Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, et al. Genome sequencing for diagnosing rare diseases. N Engl J Med. 2024;390:1985–97.

CAS  PubMed  PubMed Central  Google Scholar 

Mørup SB, Nazaryan-Petersen L, Gabrielaite M, Reekie J, Marquart HV, Hartling HJ, et al. Added value of reanalysis of whole exome- and whole genome sequencing data from patients suspected of primary immune deficiency using an extended gene panel and structural variation calling. Front Immunol. 2022;13:906328.

PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med Off J Am Coll Med Genet. 2015;17:405–24.

Google Scholar 

Harris PA, Taylor R, Minor BL, Elliott V, Fernandez M, O’Neal L, et al. The REDCap consortium: building an international community of software platform partners. J Biomed Inf. 2019;95:103208.

Google Scholar 

Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inf. 2009;42:377–81.

Google Scholar 

Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American group for Immunodeficiency) and ESID (European society for Immunodeficiencies). Clin Immunol Orlando Fla. 1999;93:190–7.

CAS  Google Scholar 

Chapel H, Lucas M, Patel S, Lee M, Cunningham-Rundles C, Resnick E, et al. Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts. J Allergy Clin Immunol. 2012;130:1197–e11989.

PubMed  Google Scholar 

Alamut™ Visual Plus - Variant Annotation and Analysis Software. SOPHiA Genet. [cited 2024 Jan 9]. Available from: https://www.sophiagenetics.com/platform/alamut-visual-plus/

ClinVar. [cited 2024 Jan 9]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/

gnomAD. [cited 2020 Aug 17]. Available from: https://gnomad.broadinstitute.org/

Home - OMIM. [cited 2024 Jan 9]. Available from: https://www.omim.org/

HGMD® home page. [cited 2024 Jan 9]. Available from: https://www.hgmd.cf.ac.uk/ac/index.php

PubMed. PubMed. [cited 2024 Jan 9]. Available from: https://pubmed.ncbi.nlm.nih.gov/

Drabe CH, Marvig RL, Borgwardt L, Lundgren JD, Maquart HVH, Katzenstein TL, et al. Case report: hyper IgM syndrome identified by whole genome sequencing in a young Syrian man presenting with atypical, severe and recurrent mucosal leishmaniasis. Front Immunol. 2020;11:567856.

CAS  PubMed  PubMed Central  Google Scholar 

Abolhassani H, Aghamohammadi A, Fang M, Rezaei N, Jiang C, Liu X, et al. Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. Genet Med Off J Am Coll Med Genet. 2019;21:243–51.

CAS  Google Scholar 

Freiberger T, Ravčuková B, Grodecká L, Pikulová Z, Stikarovská D, Pešák S, et al. Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations. Hum Immunol. 2012;73:1147–54.

CAS  PubMed  Google Scholar 

Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, et al. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood. 2009;113:1967–76.

CAS  PubMed  PubMed Central  Google Scholar 

Lee JJ, Jabara HH, Garibyan L, Rauter I, Sannikova T, Dillon SR, et al. The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency. J Allergy Clin Immunol. 2010;126:1234–e12412.

CAS  PubMed  PubMed Central  Google Scholar 

Bacchelli C, Buckland KF, Buckridge S, Salzer U, Schneider P, Thrasher AJ, et al. The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. J Allergy Clin Immunol. 2011;127:1253–e125913.

CAS  PubMed  Google Scholar 

Martinez-Gallo M, Radigan L, Almejún MB, Martínez-Pomar N, Matamoros N, Cunningham-Rundles C. TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. J Allergy Clin Immunol. 2013;131:468–76.

CAS  PubMed  Google Scholar 

Fried AJ, Rauter I, Dillon SR, Jabara HH, Geha RS. Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency. J Allergy Clin Immunol. 2011;128:226–e2281.

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