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Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
Al-Mayouf SM, Sunker A, Abdwani R, Abrawi SA, Almurshedi F, Alhashmi N, Al Sonbul A, Sewairi W, Qari A, Abdallah E, Al-Owain M, Al Motywee S, Al-Rayes H, Hashem M, Khalak H, Al-Jebali L, Alkuraya FS. Al-Mayouf SM, et al. Among authors: sewairi w. Nat Genet. 2011 Oct 23;43(12):1186-8. doi: 10.1038/ng.975. Nat Genet. 2011. PMID: 22019780
Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome.
Minoia F, Bovis F, Davì S, Insalaco A, Lehmberg K, Shenoi S, Weitzman S, Espada G, Gao YJ, Anton J, Kitoh T, Kasapcopur O, Sanner H, Merino R, Astigarraga I, Alessio M, Jeng M, Chasnyk V, Nichols KE, Huasong Z, Li C, Micalizzi C, Ruperto N, Martini A, Cron RQ, Ravelli A, Horne A; Pediatric Rheumatology International Trials Organization, the Childhood Arthritis and Rheumatology Research Alliance, the Pediatric Rheumatology Collaborative Study Group, and the Histiocyte Society. Minoia F, et al. J Pediatr. 2017 Oct;189:72-78.e3. doi: 10.1016/j.jpeds.2017.06.005. Epub 2017 Aug 12. J Pediatr. 2017. PMID: 28807357
2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative.
Ravelli A, Minoia F, Davì S, Horne A, Bovis F, Pistorio A, Aricò M, Avcin T, Behrens EM, De Benedetti F, Filipovic L, Grom AA, Henter JI, Ilowite NT, Jordan MB, Khubchandani R, Kitoh T, Lehmberg K, Lovell DJ, Miettunen P, Nichols KE, Ozen S, Pachlopnik Schmid J, Ramanan AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQ; Paediatric Rheumatology International Trials Organisation; Childhood Arthritis and Rheumatology Research Alliance; Pediatric Rheumatology Collaborative Study Group; Histiocyte Society. Ravelli A, et al. Arthritis Rheumatol. 2016 Mar;68(3):566-76. doi: 10.1002/art.39332. Epub 2016 Feb 9. Arthritis Rheumatol. 2016. PMID: 26314788 Free article.
Dissecting the heterogeneity of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis.
Minoia F, Davì S, Horne A, Bovis F, Demirkaya E, Akikusa J, Ayaz NA, Al-Mayouf SM, Barone P, Bica B, Bolt I, Breda L, De Cunto C, Enciso S, Gallizzi R, Griffin T, Hennon T, Horneff G, Jeng M, Kapovic AM, Lipton JM, Magni Manzoni S, Rumba-Rozenfelde I, Magalhaes CS, Sewairi WM, Stine KC, Vougiouka O, Weaver LK, Davidsone Z, De Inocencio J, Ioseliani M, Lattanzi B, Tezer H, Buoncompagni A, Picco P, Ruperto N, Martini A, Cron RQ, Ravelli A; Pediatric Rheumatology International Trials Organization; Childhood Arthritis and Rheumatology Research Alliance; Pediatric Rheumatology Collaborative Study Group; Histiocyte Society. Minoia F, et al. Among authors: sewairi wm. J Rheumatol. 2015 Jun;42(6):994-1001. doi: 10.3899/jrheum.141261. Epub 2015 Apr 15. J Rheumatol. 2015. PMID: 25877504
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Ter Haar N, Lachmann H, Özen S, Woo P, Uziel Y, Modesto C, Koné-Paut I, Cantarini L, Insalaco A, Neven B, Hofer M, Rigante D, Al-Mayouf S, Touitou I, Gallizzi R, Papadopoulou-Alataki E, Martino S, Kuemmerle-Deschner J, Obici L, Iagaru N, Simon A, Nielsen S, Martini A, Ruperto N, Gattorno M, Frenkel J; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects. Ter Haar N, et al. Ann Rheum Dis. 2013 May;72(5):678-85. doi: 10.1136/annrheumdis-2011-201268. Epub 2012 Jun 29. Ann Rheum Dis. 2013. PMID: 22753383 Free article. Review.
Shock: an unusual presentation of Kawasaki disease.
Thabet F, Bafaqih H, Al-Mohaimeed S, Al-Hilali M, Al-Sewairi W, Chehab M. Thabet F, et al. Among authors: al sewairi w. Eur J Pediatr. 2011 Jul;170(7):941-3. doi: 10.1007/s00431-011-1426-5. Epub 2011 Feb 24. Eur J Pediatr. 2011. PMID: 21347847
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