A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations

A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations is …
instance of (P31):
scholarly articleQ13442814
case reportQ2782326

External links are
P356DOI10.2169/INTERNALMEDICINE.1401-18
P932PMC publication ID6478996
P698PubMed publication ID30568124

P2093author name stringKiyoshi Migita
Yoshiyuki Ozono
Ryuta Nishikomori
Atsushi Kawakami
Takahiro Maeda
Hiroshi Matsubara
Noriho Sakamoto
Kuniko Abe
Shoichi Fukui
Tomoki Origuchi
Seiko Nakamichi
Aya Yoda
Yuki Nagaura
P2860cites workFamilial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic feverQ35064725
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean feverQ35555482
Familial Mediterranean fever: genotype-phenotype correlations in Japanese patientsQ36247836
Familial Mediterranean fever is no longer a rare disease in JapanQ37139961
Monogenic autoinflammatory diseases: concept and clinical manifestationsQ37162157
Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS).Q37642879
Autoinflammation and autoimmunity: bridging the divide.Q38033406
CAPS--pathogenesis, presentation and treatment of an autoinflammatory diseaseQ38473823
The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?Q38902787
Cold Exposure Related Fever with an Mediterranean Fever (MEFV) Gene MutationQ40044427
Familial Mediterranean fever patients homozygous for E148Q variant.Q40095229
Diagnostic dilemma in autoinflammatory disease in two patients: does the name matter?Q40228660
Erysipelas-like erythema of familial Mediterranean fever syndrome: a case report with emphasis on histopathologic diagnostic cluesQ40253603
Familial Mediterranean fever in JapanQ40269732
An approach to the patients with cryopyrin-associated periodic syndrome (CAPS) : a new biologic response modifier, canakinumabQ40294621
Common MEFV mutations in Iranian Azeri Turkish patients with Behçet's disease.Q40323279
Sweet's syndrome in familial Mediterranean fever: possible continuum of the neutrophilic reaction as a new cutaneous feature of FMF.Q40385028
The familial Mediterranean fever (MEVF) gene as a modifier of Crohn's diseaseQ40516407
Criteria for the diagnosis of familial Mediterranean feverQ40645936
Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafnessQ42753824
Autoinflammatory syndromes.Q46934415
Sweet's syndrome in patients with MDS and MEFV mutationsQ50451962
Polirradiculoneuritis, síndromes periódicos asociados a criopirina y fiebre mediterránea familiarQ62658624
Familial Mediterranean feverQ74309346
Clinical relevance of MEFV gene mutations in Japanese patients with unexplained feverQ83788458
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ SymptomsQ89346375
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectCapsQ1345901
cryopyrin-associated periodic syndromeQ1771331
P304page(s)1017-1022
P577publication date2019-04-01
P1433published inInternal MedicineQ6047666
P1476titleA Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations
P478volume58