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Autoinflammatory diseases: clinical and genetic advances.
Farasat S, Aksentijevich I, Toro JR. Farasat S, et al. Arch Dermatol. 2008 Mar;144(3):392-402. doi: 10.1001/archderm.144.3.392. Arch Dermatol. 2008. PMID: 18347298 Review.
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O'Shea JJ, Kastner DL. McDermott MF, et al. Cell. 1999 Apr 2;97(1):133-44. doi: 10.1016/s0092-8674(00)80721-7. Cell. 1999. PMID: 10199409
TNFRSF1A mutations and autoinflammatory syndromes.
Galon J, Aksentijevich I, McDermott MF, O'Shea JJ, Kastner DL. Galon J, et al. Curr Opin Immunol. 2000 Aug;12(4):479-86. doi: 10.1016/s0952-7915(00)00124-2. Curr Opin Immunol. 2000. PMID: 10899034 Review.
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL. Aksentijevich I, et al. Am J Hum Genet. 2001 Aug;69(2):301-14. doi: 10.1086/321976. Epub 2001 Jul 6. Am J Hum Genet. 2001. PMID: 11443543 Free PMC article.
The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.
Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL. Hull KM, et al. Medicine (Baltimore). 2002 Sep;81(5):349-68. doi: 10.1097/00005792-200209000-00002. Medicine (Baltimore). 2002. PMID: 12352631 Review.
The autoinflammatory syndromes.
McDermott MF, Aksentijevich I. McDermott MF, et al. Curr Opin Allergy Clin Immunol. 2002 Dec;2(6):511-6. doi: 10.1097/00130832-200212000-00006. Curr Opin Allergy Clin Immunol. 2002. PMID: 14752334 Review.
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