Gene Hunting in Autoinflammation

Overview

Journal Clin Transl Allergy

Publisher Wiley

Specialty Allergy & Immunology

Date 2013 Sep 28

PMID 24070009

Citations 2

Authors

Ariane Standing

Ebun Omoyinmi

Paul Brogan

Affiliations

Soon will be listed here.

Abstract

Steady progress in our understanding of the genetic basis of autoinflammatory diseases has been made over the past 16 years. Since the discovery of the familial Mediterranean fever gene MEFV (also known as marenostrin) in 1997, 18 other genes responsible for monogenic autoinflammatory diseases have been identified to date. The discovery of these genes was made through the utilisation of many genetic mapping techniques, including next generation sequencing platforms. This review article clearly describes the gene hunting approaches, methods of data analysis and the technological platforms used, which has relevance to all those working within the field of gene discovery for Mendelian disorders.

Citing Articles

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.

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PMID: 27994071 PMC: 5206503. DOI: 10.1084/jem.20161228.

Involvement of Visceral Adipose Tissue in Immunological Modulation of Inflammatory Cascade in Preeclampsia.

Naruse K, Akasaka J, Shigemitsu A, Tsunemi T, Koike N, Yoshimoto C Mediators Inflamm. 2015; 2015:325932.

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