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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hyperthermia
Comorbidity C0038363|aphthous stomatitis
Sentences 11
PubMedID- 23785712 Periodic fever with aphthous stomatitis, pharyngitis, and adenitis responsive to oral corticosteroids and dapsone.
PubMedID- 22325152 Background: the pathophysiology of pfapa syndrome, mainly characterised by regularly recurring periodic fevers associated with aphthous stomatitis, pharyngitis and/or lymphadenitis, and mostly occurring in the paediatric setting, resembles an acquired autoinflammatory disease.
PubMedID- 22878272 Periodic fevers with aphthous stomatitis, pharyngitis, and adenitis (pfapa).
PubMedID- 21672440 [periodic fever with aphthous stomatitis, pharyngitis and adenitis: report of 21 cases].
PubMedID- 21541834 As additional possible autoinflammatory syndromes, pfapa syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), schnitzler syndrome, still's disease of adult and pediatric onset, behcet disease, gout, chronic recurrent multifocal osteomyelitis (crmo) and crohn's disease also are mentioned.
PubMedID- 20734171 This article presents an orderly approach to hyperimmunoglobulin d syndrome; tumor necrosis factor receptor-1 periodic syndrome; familial mediterranean fever; periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome; and cryopyrin-associated periodic syndromes by highlighting the disease presentation, diagnosis, pathogenesis, and treatment.
PubMedID- 22759839 Periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis.
PubMedID- 25988833 Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (pfapa) syndrome.
PubMedID- 21074183 It suggests that periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome may have a certain monogenetic background.
PubMedID- 25821352 Clinical features and genetic background of the periodic fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients.
PubMedID- 23692837 The second patient had a homozygous r92q-type mutation and displayed a periodic fever with aphthous stomatitis, pharyngitis and adenitis (pfapa) syndrome-like phenotype.

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