Lack of association between E148Q MEFV variant and Kawasaki disease

Yamaguchi, Kenichiro; Ikeda, Kazuyuki; Ihara, Kenji; Takada, Hidetoshi; Kusuhara, Koichi; Hara, Toshiro

doi:10.1016/j.humimm.2008.10.017

Cited by 9 publications

(6 citation statements)

References 24 publications

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“…Heterozygosity of the R202Q mutation was detected in 48/152 (31.6%) FMF patients and in 47/140 (33.6%) healthy controls (p=0.717, diagnostic odds ratio =0.913, 95% CI 0.560-1.49). Yamaguchi et al (21) reported that R202Q heterozygotes were observed in 7/170 (4.1%) of randomly selected healthy Japanese subjects. They and their families had no episodes of periodic fever similar to FMF.…”

Section: Discussionmentioning

confidence: 99%

Familial Mediterranean Fever with Onset at 66 Years of Age

et al. 2012

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The patient was a 68-year-old woman who had experienced recurrent febrile episodes since 66 years of age. Despite various examinations and treatments, the etiology remained unclear. Further examinations following another referral failed to uncover the cause. Therefore, despite her age, it was presumed that she had familial Mediterranean fever. An analysis of the familial Mediterranean fever (MEFV) gene detected heterozygous L110P, E148Q, and R202Q mutations. No further febrile episodes occurred after colchicine treatment was initiated. Familial Mediterranean fever presenting in patients in their sixties is extremely rare.

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Section: Discussionmentioning

confidence: 99%

Familial Mediterranean Fever with Onset at 66 Years of Age

et al. 2012

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“…Furthermore, it seems that it could modulate the severity and exacerbation of vasculitis in affected patients. This hypothesis helps us to better understand Yamaguchi`s study about the functional effect of E148Q and its incompetent effect on inflammation 19. We think that in our one patient with compound heterozygote E148Q-M680I, who developed coronary artery dilatation and micro-aneurysm, combination of pathologic mutation (M680I) resulted in vasculopathy.…”

Section: Discussionmentioning

confidence: 74%

“…Yamaguchi et al reported that E148Q mutation was not associated with the development of KD that occurs in a higher frequency in Japanese children. It is possible that the functional effect of this mutation might be too small to stimulate inflammation for the development of vasculitis in KD 19…”

Section: Discussionmentioning

confidence: 99%

<p>Kawasaki disease and familial mediterranean fever gene mutations, is there any link?</p>

Salehzadeh

Mirzarahimi

Asl

et al. 2019

OARRR

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Background 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.

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“…A study on 138 children affected by KD did not show an increased risk of KD and/or associated coronaritis among the patients with MEFV mutations, as E148Q, P369S, R408Q [18].…”

Section: Discussionmentioning

confidence: 99%

Kawasaki disease triggered by EBV virus in a child with Familial Mediterranean Fever

2019

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Background Familial Mediterranean Fever is a monogenic autoinflammatory disease, secondary to mutation of MEFV gene, and typically expressed with recurrent attacks of fever, serositis, rash, aphthous changes in lips and/or oral mucosa. Kawasaki Disease, an acute systemic vasculitis with persistent fever (5 or more days), rash, stomatitis, conjunctivitis, lymphadenopathy, changes in extremities, is currently considered a multifactorial autoinflammatory disease. An infection, as Epstein Barr virus, can be the trigger of Kawasaki Disease. Case presentation We describe the clinical case of a 3-year-old boy with Kawasaki disease. Successfully treated with intravenous immune globulin, acetyl salicylate acid, he late developed anaemia and thrombocytopenia. The Epstein-Barr virus infection has been demonstrated and he showed a resolution of the clinical manifestations of Kawasaki disease with the persistence of coronaritis, without aneurisms. However, for the personal and familial history of monthly recurrent attacks of fever, pharyngitis, abdominal pain, the genetic study of MEFV was performed and demonstrated 3 heterozygous mutations of MEFV (E148Q, P369S, R408Q). Conclusions Mutations of MEFV can contribute to increase inflammatory expression in other diseases, as Kawasaki disease.

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Lack of association between E148Q MEFV variant and Kawasaki disease

Cited by 9 publications

References 24 publications

Familial Mediterranean Fever with Onset at 66 Years of Age

Familial Mediterranean Fever with Onset at 66 Years of Age

<p>Kawasaki disease and familial mediterranean fever gene mutations, is there any link?</p>

Kawasaki disease triggered by EBV virus in a child with Familial Mediterranean Fever

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