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Page 1
What is PFAPA syndrome? Genetic clues about the pathogenesis.
Manthiram K. Manthiram K. Curr Opin Rheumatol. 2023 Nov 1;35(6):423-428. doi: 10.1097/BOR.0000000000000956. Epub 2023 Jul 17. Curr Opin Rheumatol. 2023. PMID: 37467064 Review.
PURPOSE OF REVIEW: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in childhood. Recent studies report genetic susceptibility variants for PFAPA syndrome and the efficacy of t …
PURPOSE OF REVIEW: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic …
Tonsillotomy for Periodic Fever Syndrome: A Randomized and Controlled Trial.
Lantto U, Tapiainen T, Pokka T, Koivunen P, Helminen M, Piitulainen J, Rekola J, Uhari M, Renko M. Lantto U, et al. Laryngoscope. 2024 Feb;134(2):968-972. doi: 10.1002/lary.30863. Epub 2023 Jul 21. Laryngoscope. 2024. PMID: 37477273 Clinical Trial.
Tonsillotomy has a milder operative risk profile and postoperative morbidity in children than tonsillectomy. We aimed to compare the efficacy of tonsillotomy to observation-only in children with PFAPA syndrome at a 3-month follow-up. ...Participants were randomized into a …
Tonsillotomy has a milder operative risk profile and postoperative morbidity in children than tonsillectomy. We aimed to compare the efficac …
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
McNaughton P, Willcocks S, Lum SH, Whitehead B, Peake J, Preece K. McNaughton P, et al. J Paediatr Child Health. 2022 Mar;58(3):404-408. doi: 10.1111/jpc.15722. Epub 2021 Sep 9. J Paediatr Child Health. 2022. PMID: 34499401
CONCLUSION: The European classification criteria can form a potentially useful tool to guide diagnosis; however, clinical judgement remains essential, because the score is often positive for multiple diagnoses. The diagnostic yield of genetic testing in this cohort was low …
CONCLUSION: The European classification criteria can form a potentially useful tool to guide diagnosis; however, clinical judgement remains …
Hyper-IgD syndrome or mevalonate kinase deficiency.
Stoffels M, Simon A. Stoffels M, et al. Curr Opin Rheumatol. 2011 Sep;23(5):419-23. doi: 10.1097/BOR.0b013e328349c3b1. Curr Opin Rheumatol. 2011. PMID: 21760510 Review.
PURPOSE OF REVIEW: The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). ...La …
PURPOSE OF REVIEW: The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary auto …
Development of the autoinflammatory disease damage index (ADDI).
Ter Haar NM, Annink KV, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler SM, Brogan PA, Cantarini L, Cattalini M, Cochino AV, De Benedetti F, Dedeoglu F, De Jesus AA, Della Casa Alberighi O, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Koné-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Ozen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Gattorno M, Frenkel J. Ter Haar NM, et al. Ann Rheum Dis. 2017 May;76(5):821-830. doi: 10.1136/annrheumdis-2016-210092. Epub 2016 Nov 3. Ann Rheum Dis. 2017. PMID: 27811147 Free article.
Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency. …
Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated pe …
Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome.
Feder HM Jr. Feder HM Jr. Curr Opin Pediatr. 2000 Jun;12(3):253-6. doi: 10.1097/00008480-200006000-00014. Curr Opin Pediatr. 2000. PMID: 10836162 Review.
The classic periodic fever syndrome is cyclic neutropenia (neutropenia followed by infections and fever that recur every 21 days). A new periodic fever syndrome PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adeniti …
The classic periodic fever syndrome is cyclic neutropenia (neutropenia followed by infections and fever that recur ever …
Clinical and genetic features of Chinese adult patients with tumour necrosis factor receptor-associated periodic fever syndrome.
Zhao M, Luo Y, Wu D, Yang Y, Sun Y, Wang R, Shen M. Zhao M, et al. Rheumatology (Oxford). 2020 Aug 1;59(8):1969-1974. doi: 10.1093/rheumatology/kez569. Rheumatology (Oxford). 2020. PMID: 31774538
OBJECTIVES: TNF receptor-associated periodic fever syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease caused by mutations of TNF receptor superfamily member 1 A (TNFRSF1A) gene. ...RESULTS: The median age of disease onset was 3 (0.5-3 …
OBJECTIVES: TNF receptor-associated periodic fever syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory …
The use of ketotifen as long-term anti-inflammatory prophylaxis in children with PFAPA syndrome.
Kapustova L, Banovcin P, Bobcakova A, Jurkova Malicherova E, Kapustova D, Petrovicova O, Slenker B, Markocsy A, Oleksak F, Vorcakova K, Jesenak M. Kapustova L, et al. Front Immunol. 2023 Dec 7;14:1302875. doi: 10.3389/fimmu.2023.1302875. eCollection 2023. Front Immunol. 2023. PMID: 38143757 Free PMC article. Clinical Trial.
INTRODUCTION: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA) is the most frequent periodic fever syndrome in children. Its pathogenesis is still unknown, but some disease-modifying factors were observed. ...We administer …
INTRODUCTION: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA) is the most frequent periodic fever …
Molecular and genetic characteristics of hereditary autoinflammatory diseases.
Tunca M, Ozdogan H. Tunca M, et al. Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):77-80. doi: 10.2174/1568010053622957. Curr Drug Targets Inflamm Allergy. 2005. PMID: 15720239 Review.
There are currently eight hereditary forms of these diseases: Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS), …
There are currently eight hereditary forms of these diseases: Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic …
Real-world safety and effectiveness of canakinumab in patients with cryopyrin-associated periodic fever syndrome: a long-term observational study in Japan.
Hosono K, Kato C, Sasajima T. Hosono K, et al. Clin Exp Rheumatol. 2022 Sep;40(8):1543-1553. doi: 10.55563/clinexprheumatol/pjs6eh. Epub 2022 Sep 14. Clin Exp Rheumatol. 2022. PMID: 36106540 Free article.
OBJECTIVES: A post-marketing all-patient surveillance program was conducted to evaluate the safety and effectiveness of canakinumab, a monoclonal anti-interleukin-1beta antibody, in patients in Japan with cryopyrin-associated periodic fever syndrome (CAPS), i …
OBJECTIVES: A post-marketing all-patient surveillance program was conducted to evaluate the safety and effectiveness of canakinumab, a monoc …
50 results