Tumor Necrosis Factor Receptor-associated Periodic Syndrome Mimicking Systemic Juvenile Idiopathic Arthritis

Manki, Akira; Nishikomori, Ryuta; Nakata-Hizume, Mami; Kunitomi, Taiji; Takei, Syuji; Urakami, Tomoko; Morishima, Tsuneo

doi:10.2332/allergolint.55.337

Cited by 23 publications

(12 citation statements)

References 15 publications

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“…We describe here a patient with two simultaneous mutations in TNFR1 resulting in TRAPS symptoms. The C30F mutation has not been previously described in TRAPS patients, although there are three other mutations described in the literature affecting the same residue (C30R, C30Y, C30S) [4,11,18]. Dodé et al described three family members with the C30S substitution and a spectrum of clinical symptoms.…”

Section: Discussionmentioning

confidence: 92%

TNF receptor-associated periodic syndrome (TRAPS): Description of a novel TNFRSF1A mutation and response to etanercept

et al. 2008

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TRAPS is the most common of the autosomal dominant periodic fever syndromes. It is caused by mutations in the TNFRSF1A gene, which encodes for the type 1 TNF-receptor (TNFR1). We describe here a Brazilian patient with TRAPS associated to a novel TNFRSF1A de novo mutation and the response to anti-TNF therapy. The patient is a 9-year-old girl with recurrent fevers since the age of 3 years, usually lasting 3 to 7 days, and recurring every other week. These episodes are associated with mild abdominal pain, nausea, vomiting and generalized myalgia. Recurrent conjunctivitis and erysipela-like skin lesions in the lower limbs also occur. Laboratory studies show persistent normocytic normochromic anemia, thrombocytosis, elevated erythrocyte sedimentation rate and C-reactive protein. IgD levels are normal. Mutational screening of TNFRSF1A revealed the association of a novel C30F mutation with the common R92Q low-penetrance mutation. The R92Q mutation is seen in 5% of the general population and is associated with an atypical inflammatory phenotype. The patient had a very good response to etanercept, with cessation of fever and normalization of inflammatory markers. Our report expands the spectrum of TNFRSF1A mutations associated with TRAPS, adding further evidence for possible additive effects of a low-penetration R92Q and cysteine residue mutations, and confirms etanercept as an efficacious treatment alternative.

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Section: Discussionmentioning

confidence: 92%

TNF receptor-associated periodic syndrome (TRAPS): Description of a novel TNFRSF1A mutation and response to etanercept

et al. 2008

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“…Though genetic testing toward other hereditary periodic fever syndromes was not performed, the authors suggested that phenotypic differences between the siblings might be due to a coexisting mutation in another autoinflammatory gene. 9 In the current case, genetic testing revealed coexisting familial Mediterranean fever-associated mutation of reduced penetrance -K695R-a missense substitution in exon 10 encoding the PRYSPRY-domain of the MEFV gene.…”

Section: Discussionmentioning

confidence: 99%

“…8,9 One of them was a boy in whom repetitive attacks of fever started at six months of age. As compared to our patient, the boy had more severe presentation of the disease, including prolonged episodes of fever, rash, arthritis, and pericarditis.…”

Section: Discussionmentioning

confidence: 99%

Early Onset of Periodic Fever Syndrome in a Patient Carrying Both Tumor Necrosis Factor Receptor Superfamily 1A and Mediterranean Fever Mutations

2016

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“…In 2006, Manki et al described two Japanese siblings with TRAPS (caused by the missense C30Y TNFRSF1A mutation in both) who presented pleural involvement and a characteristic decrease of serum soluble TNF-receptor, initially misdiagnosed as systemic-onset juvenile idiopathic arthritis at onset, suggesting that TRAPS can be frequently overlooked or misdiagnosed, and that TRAPS should be considered in all pediatric patients with atypical recurrent inflammatory manifestations [32]. …”

Section: Tumor Necrosis Factor Receptor-associated Periodic Syndromementioning

confidence: 99%

Lung Involvement in Children with Hereditary Autoinflammatory Disorders

Tarantino

Esposito

Andreozzi

et al. 2016

IJMS

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Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is pleuritis in familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively caused by mutations in the MEFV and TNFRSF1A genes, while interstitial lung disease can be observed in STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in the TMEM173 gene. The specific pleuropulmonary diseases may range from sub-clinical abnormalities during inflammatory flares of FMF and TRAPS to a severe life-threatening disorder in children with SAVI.

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Tumor Necrosis Factor Receptor-associated Periodic Syndrome Mimicking Systemic Juvenile Idiopathic Arthritis

Abstract: Based on the clinical features and the TNFRSF1A mutation, both siblings were given a diagnosis of TRAPS. The serum levels of soluble TNFRSF1A, measured along with the CRP level, may be a useful screening marker for differentiating TRAPS from systemic JIA.

Cited by 23 publications

References 15 publications

TNF receptor-associated periodic syndrome (TRAPS): Description of a novel TNFRSF1A mutation and response to etanercept

TNF receptor-associated periodic syndrome (TRAPS): Description of a novel TNFRSF1A mutation and response to etanercept

Early Onset of Periodic Fever Syndrome in a Patient Carrying Both Tumor Necrosis Factor Receptor Superfamily 1A and Mediterranean Fever Mutations

Lung Involvement in Children with Hereditary Autoinflammatory Disorders

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