ArticleGenes and immunity2009
The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency.
Article in Genes and immunity, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 49 citations in OpenAlex.
- Immunoglobulin a Deficiency in Coeliac Disease: A Scoping Review.United European gastroenterology journal · 2026Article
- When to consider an inborn error of immunity: clues for physicians.Internal medicine journal · 2026Review
- Advances in understanding and managing celiac disease: Pathophysiology and treatment strategies.World journal of gastroenterology · 2024Article
- Clinical and experimental treatment of primary humoral immunodeficiencies.Clinical and experimental immunology · 2024Review
- Extra X, extra questions: Trisomy X syndrome and IgA deficiency - a case report.Frontiers in immunology · 2024Article
- Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications.Journal of clinical medicine · 2021Review
- Innate Mechanisms in Selective IgA Deficiency.Frontiers in immunology · 2021Review
- Primary Humoral Immune Deficiencies: Overlooked Mimickers of Chronic Immune-Mediated Gastrointestinal Diseases in Adults.International journal of molecular sciences · 2020Review
- The Epidemiology and Clinical Manifestations of Autoimmunity in Selective IgA Deficiency.Clinical reviews in allergy & immunology · 2020Review
- Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children.European journal of pediatrics · 2019Article
- Microbiota regulate the ability of lung dendritic cells to induce IgA class-switch recombination and generate protective gastrointestinal immune responses.The Journal of experimental medicine · 2016Article
- Seronegative Celiac Disease and Immunoglobulin Deficiency: Where to Look in the Submerged Iceberg?Nutrients · 2015Review
- The role of chronic norovirus infection in the enteropathy associated with common variable immunodeficiency.The American journal of gastroenterology · 2015Article
- Targeted modification of wheat grain protein to reduce the content of celiac causing epitopes.Functional & integrative genomics · 2012Review
- Profile of autoantibodies against phosphorylcholine and cross-reactivity to oxidation-specific neoantigens in selective IgA deficiency with or without autoimmune diseases.Journal of clinical immunology · 2010Article
- Selective IgA deficiency.Journal of clinical immunology · 2010Review
- Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample.Genes and immunity · 2009Article
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Authors and funding
22 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
IgA deficiency (IgAD) and common variable immunodeficiency (CVID) often co-occur in families, associating with chronic inflammatory diseases such as celiac disease (CD). ICOS (inducible co-stimulator) and CTLA4 (cytotoxic T-lymphocyte-associated protein-4) may be important in both disorders, as ICOS is necessary for Ig class-switching and CTLA4 negatively regulates T-cell activation. Linkage and association of CD with CTLA4-ICOS is well documented, we thus aimed to further pinpoint CD susceptibility by haplotype-tagging analysis. We genotyped 663 CD families from Finland and Hungary, 575 additional CD patients from Finland, Hungary and Italy; 275 Swedish and Finnish IgAD individuals and 87 CVID individuals for 14-18 genetic markers in CTLA4-ICOS. Association was found between CTLA4-ICOS and both IgAD (P=0.0015) and CVID (P=0.0064). We confirmed linkage of CTLA4-ICOS with CD (LOD 2.38, P=0.0005) and found association of CTLA4-ICOS with CD (P=0.0009). Meta-analysis of the IgAD, CVID and CD materials revealed intergenic association (P=0.0005). Disease-associated markers were associated with lower ICOS and higher CTLA4 expression, indicating that the risk haplotypes contain functional variants. In summary, we identified a novel shared risk locus for IgAD, CVID and CD, the first report of association between CTLA4-ICOS and IgAD. Association between CD and CTLA4-ICOS was also confirmed in a large European data set.
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