Kawasaki disease and familial mediterranean fever gene mutations, is there any link?

Farhad Salehzadeh,1 Mehrdad Mirzarahimi,2 Saied Hosseini Asl,3 Roghayeh Nematdoust Haghi41Pediatric Rheumatology, Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Pediatric, Pediatric Department, Bouali Children’s H...

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Autores principales:	Salehzadeh F, Mirzarahimi M, Hosseini Asl S, Nematdoust Haghi R
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2019
Materias:	FMF Vasculitis MEFV gene Kawasaki disease Diseases of the musculoskeletal system RC925-935
Acceso en línea:	https://doaj.org/article/85ba88ebc33141fbb7749ca92180ded0
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spelling	oai:doaj.org-article:85ba88ebc33141fbb7749ca92180ded02021-12-02T08:28:21ZKawasaki disease and familial mediterranean fever gene mutations, is there any link?1179-156Xhttps://doaj.org/article/85ba88ebc33141fbb7749ca92180ded02019-05-01T00:00:00Zhttps://www.dovepress.com/kawasaki-disease-and-familial-mediterranean-fever-gene-mutations-is-th-peer-reviewed-article-OARRRhttps://doaj.org/toc/1179-156XFarhad Salehzadeh,1 Mehrdad Mirzarahimi,2 Saied Hosseini Asl,3 Roghayeh Nematdoust Haghi41Pediatric Rheumatology, Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Pediatric, Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 3Molecular-Genetic, Genetic Laboratory, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, Iran; 4Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, IranBackground and aim: Kawasaki disease (KD) is an acute febrile, self-limiting, and systemic vasculitis of unknown etiology. MEFV gene has a major role in autoinflammatory disorders and innate immune reactions. Several reports revealed that MEFV gene mutations are associated with systemic vasculitis. The aim of this study was to determine the association between KD and MEFV gene mutations.Methods: The peripheral blood of 30 patients who were diagnosed with KD based on ACC criteria and 224 healthy people as a control group (113 male and 111 female), were collected and the samples screened for the 12 common pathogenic variants according to manufacturer’s instructions.Results: The mean age of patients (13 females and 17 males) was 7.7 years. Ten percent of patients showed a mutation, that was meaningfully (p<0.05%) lower than that of healthy controls (25%). E148Q was shown in two patients and compound heterozygous (E148Q-M680I) was detected in one of them with lack of FMF presentations. No significant and meaningful associations were detected between the MEFV gene variant alleles and KD.Conclusion: Unlike in other types of pediatric vasculitis, this study did not reveal any significant association between the MEFV gene mutations and KD, moreover, because of the lower frequency of mutations in these patients, it seems that this gene has a modifier and/or protective role in KD.Keywords: FMF, vasculitis, MEFV gene, Kawasaki diseaseSalehzadeh FMirzarahimi MHosseini Asl SNematdoust Haghi RDove Medical PressarticleFMFVasculitisMEFV geneKawasaki diseaseDiseases of the musculoskeletal systemRC925-935ENOpen Access Rheumatology: Research and Reviews, Vol Volume 11, Pp 127-131 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	FMF Vasculitis MEFV gene Kawasaki disease Diseases of the musculoskeletal system RC925-935
spellingShingle	FMF Vasculitis MEFV gene Kawasaki disease Diseases of the musculoskeletal system RC925-935 Salehzadeh F Mirzarahimi M Hosseini Asl S Nematdoust Haghi R Kawasaki disease and familial mediterranean fever gene mutations, is there any link?
description	Farhad Salehzadeh,1 Mehrdad Mirzarahimi,2 Saied Hosseini Asl,3 Roghayeh Nematdoust Haghi41Pediatric Rheumatology, Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Pediatric, Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 3Molecular-Genetic, Genetic Laboratory, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, Iran; 4Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, IranBackground and aim: Kawasaki disease (KD) is an acute febrile, self-limiting, and systemic vasculitis of unknown etiology. MEFV gene has a major role in autoinflammatory disorders and innate immune reactions. Several reports revealed that MEFV gene mutations are associated with systemic vasculitis. The aim of this study was to determine the association between KD and MEFV gene mutations.Methods: The peripheral blood of 30 patients who were diagnosed with KD based on ACC criteria and 224 healthy people as a control group (113 male and 111 female), were collected and the samples screened for the 12 common pathogenic variants according to manufacturer’s instructions.Results: The mean age of patients (13 females and 17 males) was 7.7 years. Ten percent of patients showed a mutation, that was meaningfully (p<0.05%) lower than that of healthy controls (25%). E148Q was shown in two patients and compound heterozygous (E148Q-M680I) was detected in one of them with lack of FMF presentations. No significant and meaningful associations were detected between the MEFV gene variant alleles and KD.Conclusion: Unlike in other types of pediatric vasculitis, this study did not reveal any significant association between the MEFV gene mutations and KD, moreover, because of the lower frequency of mutations in these patients, it seems that this gene has a modifier and/or protective role in KD.Keywords: FMF, vasculitis, MEFV gene, Kawasaki disease
format	article
author	Salehzadeh F Mirzarahimi M Hosseini Asl S Nematdoust Haghi R
author_facet	Salehzadeh F Mirzarahimi M Hosseini Asl S Nematdoust Haghi R
author_sort	Salehzadeh F
title	Kawasaki disease and familial mediterranean fever gene mutations, is there any link?
title_short	Kawasaki disease and familial mediterranean fever gene mutations, is there any link?
title_full	Kawasaki disease and familial mediterranean fever gene mutations, is there any link?
title_fullStr	Kawasaki disease and familial mediterranean fever gene mutations, is there any link?
title_full_unstemmed	Kawasaki disease and familial mediterranean fever gene mutations, is there any link?
title_sort	kawasaki disease and familial mediterranean fever gene mutations, is there any link?
publisher	Dove Medical Press
publishDate	2019
url	https://doaj.org/article/85ba88ebc33141fbb7749ca92180ded0
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_version_	1718398496161136640

Kawasaki disease and familial mediterranean fever gene mutations, is there any link?

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