Literature DB >> 18690165

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant.

Tim Savage1, Brendan G Loftus, Vincent Tormey, Michael F McDermott, Edina Moylett.   

Abstract

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is one of a number of well described hereditary periodic febrile syndromes. We report a case in an infant, with a strong family history of this disorder, who presented on day-of-life 4 with high fever, irritability, diarrhea, lethargy, and raised acute phase reactants. An extensive work-up, including a full sepsis evaluation, proved negative. Symptoms resolved spontaneously. Representation with similar symptoms at 7 months of age prompted successful diagnosis after full evaluation. Subsequent genetic mutation analysis has proven positive for the T50M mutation in exon 2 of the TNFRSF1A gene. To our knowledge, this is the youngest reported age of presentation of this rare autoinflammatory disorder which should be considered even at such a young age.

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Year:  2008        PMID: 18690165     DOI: 10.1097/RHU.0b013e31817d109b

Source DB:  PubMed          Journal:  J Clin Rheumatol        ISSN: 1076-1608            Impact factor:   3.517


  3 in total

1.  Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site.

Authors:  Petra Lehmann; Bernd Salzberger; Peter Haerle; Ivona Aksentijevich; Daniel Kastner; Juergen Schoelmerich; Stephanie Rosenfeld; Ulf Mueller-Ladner
Journal:  Mod Rheumatol       Date:  2010-02-19       Impact factor: 3.023

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

Authors:  Barbara Kraszewska-Głomba; Zofia Szymańska-Toczek; Leszek Szenborn
Journal:  Arch Rheumatol       Date:  2016-06-28       Impact factor: 1.472

3.  Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report.

Authors:  Suhas M Radhakrishna; Amy Grimm; Lori Broderick
Journal:  BMC Pediatr       Date:  2017-04-20       Impact factor: 2.125

  3 in total

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