Mediterranean fever (&lt;i&gt;MEFV&lt;/i&gt;) Variant &lt;i&gt;P369S/R408Q&lt;/i&gt; in a Patient with Entero-Behçet's Disease who Successfully Responded to Treatment with Colchicine

Fujikawa, Keita; Migita, Kiyoshi; Nagasato, Akio; Takahashi, Toshiaki; Kawakami, Atsushi; Eguchi, Katsumi

doi:10.2169/internalmedicine.53.2872

Cited by 6 publications

(4 citation statements)

References 24 publications

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“…32 The associated phenotypes included atypical FMF, 32 PFAPA-like 33 and entero-Behçet 6 disease. 34 In general, the patients are colchicine-responders. In a three-generation Spanish kindred, five affected members fulfilling the Tel-Hashomer criteria presented with a severe periodic inflammatory disorder segregating with the rare p.H478Y MEFV variant located in exon 5.…”

Section: From Fmf To Paadmentioning

confidence: 99%

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity

Boursier

Hentgen

Sarrabay

et al. 2019

The Journal of Pediatrics

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Pyrin-associated autoinflammatory disease with neutrophilic dermatosis PAPA: Pyogenic arthritis, pyoderma gangrenosum and acne PFAPA: Periodic fever' apthous-stomatitis, cervical pharyngitis and adenitis SAID: Systemic autoinflammatory disease WES: Whole-exome sequencing Familial Mediterranean fever (FMF) is a genetic disease characterized by recurrent fever and serositic attacks. It is the oldest known hereditary recurrent fever 1, 2 and the first systemic autoinflammatory

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Section: From Fmf To Paadmentioning

confidence: 99%

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity

Boursier

Hentgen

Sarrabay

et al. 2019

The Journal of Pediatrics

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“…Several studies have demonstrated associations of MEFV mutations with different inflammatory disorders, such as Behçet's disease [18] and Sweet's syndrome [19]. The report of a growing number of similar cases associated with MEFV suggests that pyrin is a key regulatory element of innate immunity that affects inflammatory processes in these diseases [20][21][22].…”

Section: Geneticsmentioning

confidence: 99%

Familial Mediterranean fever: overview of pathogenesis, clinical features and management

Migita

Asano

Sato

et al. 2018

Immunological Medicine

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Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, and is characterized by recurrent attacks of fever and polyserositis. It is associated with mutations in the MEFV gene encoding pyrin, which result in inflammasome activation and the uncontrolled production of IL-1b. FMF mainly affects individuals originating from the Mediterranean basin; however, a Japanese nationwide survey demonstrated that FMF is not uncommon in Japan. The survey also indicated that Japanese FMF patients are clinically or genetically distinct from Mediterranean FMF patients, suggesting a genotype-phenotype correlation. In Japanese patients with FMF, MEFV exon 10 mutations are associated with the more typical FMF phenotype. Conversely, Japanese FMF patients with mutations in MEFV exons 2 or 3 present with an atypical FMF phenotype. Colchicine is the mainstay of FMF treatment, and its regular use prevents febrile attacks and decreases the long-term risk of AA amyloidosis. However, a minority of FMF patients are colchicine-resistant, and anti-IL-1 treatment has proven beneficial in suppressing inflammation in these patients. Although Japanese FMF patients may develop less severe disease compared with Mediterranean FMF patients, they should nevertheless be treated early to prevent recurrent attacks and the subsequent development of AA amyloidosis.

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“…When in cis position, they are often associated with a highly variable phenotype, and infrequently with typical FMF symptoms [7, 8]. Additionally, published literature reports that these variants both in cis and/or trans position are found in patients with PFAPA, Henoch-Schönlein purpura, inflammatory myopathies, protracted febrile myalgia syndrome and Behcet’s disease [9–12]. Related to this was the report of a patient heterozygous for P369S and R408Q variants with systemic lupus erythematosus-associated MAS [13].…”

Section: Discussionmentioning

confidence: 99%

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

et al. 2019

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BackgroundDespite recent advances in the diagnosis and understanding of many autoinflammatory diseases, there are still a great number of patients with phenotypes that do not fit any clinically- and/or genetically-defined disorders.Case presentationWe describe a fourteen-year-old boy who presented at two and a half years of age with recurrent febrile episodes. Over the course of the disease, the episodes increased in frequency and severity, with new signs and symptoms continuing to appear. Most importantly, these included skin changes, splenomegaly and transaminitis. Only partial control of the disease was achieved with anti-IL-1 therapy. Extensive investigation showed generalized inflammation without immune deficiency, with increased levels of serum amyloid A and several pro-inflammatory cytokines including interferon-γ, as well as an increased type I interferon score. Exome sequence analysis identified P369S and R408Q variants in the MEFV innate immunity regulator, pyrin (MEFV) gene and T260 M and T320 M variants in the NLR family pyrin domain containing 12 (NLRP12) gene.ConclusionPatients with unclassified and/or unexplained autoinflammatory syndromes present diagnostic and therapeutic challenges and collectively form a substantial part of every cohort of patients with autoinflammatory diseases. Therefore, it is important to acquire their full genomic profile through whole exome and/or genome sequencing and present their cases to a broader audience, to facilitate characterization of similar patients. A critical mass of well-characterized cases will lead to improved diagnosis and informed treatment.

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Mediterranean fever (<i>MEFV</i>) Variant <i>P369S/R408Q</i> in a Patient with Entero-Behçet's Disease who Successfully Responded to Treatment with Colchicine

Cited by 6 publications

References 24 publications

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity

Familial Mediterranean fever: overview of pathogenesis, clinical features and management

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

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