A genetic database and clinical findings for immunodeficiency due to mutations in interleukin-10, interleukin-10 receptor A, and interleukin-10 receptor B genes
Abstract
Defects in interleukin (IL)-10 cytokine and receptors are associated with severe immune dysregulation, with affected patients presenting mainly with very early onset inflammatory bowel disease (VEO-IBD), arthritis, and skin manifestations such as dermatitis and folliculitis. We have created a database of published mutations in the genes encoding for IL-10, IL-10 receptor A (IL-10RA), and IL-10 receptor B (IL-10RB). All published mutations were reviewed and clinical as well as laboratory phenotypes recorded. Many variants in these genes are reported to be associated with IBD, as well as other diseases and pathologies. However, in this review we have focused on mutations considered harmful to the gene product and which lead to the classic presentation of VEO-IBD. This database can assist clinicians in the diagnosis of patients with specific features of immunodeficiency. A yearly update of new mutations and phenotypes will be performed.
Statement of novelty: The presented database and short review is the first extensive collection of reported mutations and the clinical features of Very Early Onset IBD due to IL10 related genes.
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LymphoSign Journal
Volume 4 • Number 2 • June 2017
Pages: 80 - 85
History
Received: 3 November 2016
Accepted: 12 February 2017
Accepted manuscript online: 20 March 2017
Version of record online: 20 March 2017
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© 2017.
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Amarilla B.Mandola, YotamEshel, and AmitNahum. 2017. A genetic database and clinical findings for immunodeficiency due to mutations in interleukin-10, interleukin-10 receptor A, and interleukin-10 receptor B genes. LymphoSign Journal.
4(2): 80-85. https://doi.org/10.14785/lymphosign-2016-0014
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