Familial autoinflammatory diseases: Genetics, pathogenesis and treatment

Current Opinion in Rheumatology

Volumn 17, Issue 5, 2005, Pages 586-599

  Stojanov, Silvia ^a,b   Kastner, Daniel L ^a  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Genetics; Hereditary recurrent fevers; Inflammasome; Systemic autoinflammatory diseases; Therapy

Indexed keywords

INTERLEUKIN 1BETA; PROTEIN P55;

AMYLOIDOSIS; CLINICAL GENETICS; CRYOPYRIN ASOCIATED PERIODIC SYNDROME; DOMINANT INHERITANCE; ETHNOLOGY; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL DISEASE; FAMILIAL MEDITERRANEAN FEVER; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; INFLAMMATORY DISEASE; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RECESSIVE INHERITANCE; REVIEW; SYSTEMIC AUTOINFLAMMATORY DISEASE; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

AUTOIMMUNE DISEASES; AUTOIMMUNITY; HUMANS;

EID: 27344448749     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/bor.0000174210.78449.6b     Document Type: Review

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92. Shoham NG, Centola M, Mansfield E, et al. Pyrin binds the PSTPIP1/ CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A 2003; 100:13501-13506.
93. Stehlik C, Fiorentino L, Dorfleutner A, et al. The PAAD/PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor kappaB activation pathways. J Exp Med 2002; 196:1605-1615.
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95. Diaz A, Hu C, Kastner DL, et al. Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts. Arthritis Rheum 2004; 50:3679-3689. An important paper demonstrating the expression of pyrin in synovial fibroblasts and the localization of endogenous pyrin in the nucleus in synovial fibroblasts, neutrophils, and dendritic cells.
96. Cazeneuve C, Papin S, Jeru I, et al. Subcellular localization of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC. J Med Genet 2004; 41:e24. This paper investigates the effect of the most frequent MEFV mutations on the subcellular localization of pyrin isoforms in the absence or presence of ASC.
97. Aganna E, Hammond L, Hawkins PN, et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003; 48:2632-2644.
98. Huggins ML, Radford PM, McIntosh RS, et al. Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types. Arthritis Rheum 2004; 50:2651-2659. Report describing the effect of mutations in TNFRSF1A on receptor cleavage and investigating cleavage in different cell types for specific TRAPS mutations.
99. Todd I, Radford PM, Draper-Morgan KA, et al. Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour. Immunology 2004; 113:65-79. First report of abnormal intracellular trafficking and TNF binding of mutant TNFRSF1A in TRAPS.
100. Siebert S, Amos N, Fielding CA, et al. Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant. Arthritis Rheum 2005; 52:1287-1292. First report of deficient TNF-induced apoptosis in human fibroblasts containing the C43S TNFRSF1A mutant.
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102. Hawari FI, Rouhani FN, Cui X, et al. Release of full-length 55-kDa TNF receptor 1 in exosome-like vesicles: a mechanism for generation of soluble cytokine receptors. Proc Natl Acad Sci U S A 2004; 101:1297-1302. This paper describes the release of exosome-like vesicles as a mechanism for the generation of soluble, full-length TNFRSF1A.
103. Frenkel J, Houten SM, Waterham HR, et al. Mevalonate kinase deficiency and Dutch type periodic fever. Clin Exp Rheumatol 2000; 18:525-532.
104. Saulsbury FT. Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration. J Pediatr 2003; 143:127-129.
105. Takada K, Aksentijevich I, Mahadevan V, et al. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2003; 48:2645-2651.
106. Drenth JPH, Haagsma CJ, van der Meer JWM. International Hyper-IgD Study Group. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine (Baltimore) 1994; 73:133-144.
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108. Simon A, Drewe E, van der Meer JW, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004; 75:476-483. Clinical trial investigating the anti-inflammatory properties of 3′-hydroxy-3′-methylglutaryl- coenzyme A reductase inhibition with simvastatin in HIDS patients.
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113. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004; 50:607-612. Report of the overlapping clinical features of CAPS and an effective treatment of MWS patients with anakinra.
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