Doenças auto-inflamatórias: um novo conceito fisiopatológico
Palavras-chave:
Doenças auto-inflamatórias, pirina, marenostrina, receptor do TNF, TRAPSResumo
Introduz-se o conceito de doença auto-inflamatória, baseado nos quatro seguintes atributos:
processos inflamatórios não específicos de órgão,
surtos de inflamação sem factor desencadeante
aparente, ausência de auto-anticorpos em titulação
significativa e ausência de linfócitos antigénio-específicos. Descreve-se o conhecimento actual do
papel da marenostrina/pirina na Febre
Mediterrânica Familiar e do Receptor do TNF nas TRAPS.
Downloads
Referências
Galon J, Aksentijevich I, McDermott MF, O’Shea JJ, Kastner DL. TNFRSF1A mutations and autoinflammatory syndromes. Curr Opin
Immunol 2000;12:479-486.
Daniels M, Shohat T, Brenner-Ullman A, Shohat M. Familial Mediterranean fever: high gene frequency among the non-Askenazic
and Aakenazic Jewish populations in Israel. Am J Med Genet 1995;55:311-314.
Rogers DB, Shohat M, Petersen GM, et al. Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene
frequency. Am J Med Genet 1989;34:168-172.
Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998;351:659-664.
Sohar E, Gafni J, Pras M, et al. Familial Meditteranean fever: a survey of 470 cases and review of the literature. Am J Med
;43:227-253.
The International FMF Consorcium. Ancient missence mutations in a new member of the RoRet gene family are likely to cause
familial Mediterranean fever. Cell 1997;90:797-807.
The French FMF Consorcium: a candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
Henry J, Ribouchon MT, Offer C, Pontarrotti P. B30.2 domain proteins: a growing family. Biochem Biophys Res Comm
;235:162-165.
Ben-Chetrit E, Levy M- Familial Mediterranean Fever. Lancet 1998;351:659-664.
Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial hibernian fever. Quart J Med 1982;51:469-
McDermott EM, Smillie DM, Powell RJ. The clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index
and extended family. Mayo Clin Proc 1997;72:806-817.
Mulley J, Saar K, Hewitt G, Rushendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M. Gene localization for an autosomal
dominant familial periodic fever to 12p13. Am J Hum Genet 1998;62:884-889.
Gertz MA, Petitt RA, Perrault J, Kyle RA. Autosomal dominant familial Mediterranean fever-like with amyloidosis. Mayo Clin Proc 1987;62:1095-1100.
McDermott MF, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, McCarthy J, Phelan M, Molloy MG, Powell
RJ et al. Linkage of familial Hibernian fever to chromosome 12p13. Am J H Genet 1998;62:1446-1451.
Peshon JJ, Torrance DS, Stocking KL, Glaccum MB, Otten C, Willis CR, Charrier K, Morrissey PJ, Ware CB, Mohler KM. TNF
receptor-deficient mice reveal divergent roles for p55 and p75 in several models of inflammation. J Immunol 1998;160:943-952.
McDeermott 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 et al. Germline mutations in the extracelular domains of the 55kDa TNF receptor,
TNRF1, define a family of the dominantly inherited autoinflamatory syndromes. Cell 1999;97:133-144.
Galon J, Aksentijevich I, McDermott MF, O’Shea JJ, Kastner DL. TNFRSF1A mutations and autoinflammatory syndromes. Curr
Opin Immunol 2000;12:479-486.
Robinson DR. Inflammation, in: Klippel JH, Dieppe PA (editors) Rheumatology(2ª edição).1998 London, Mosby,1.7.1-10.
Crowe PD, Walter BN, Mohler KM, Otten-Evans C, Black RA, Ware CF: A metalloprotease inhibitor blocks shedding of the 80kD
TNF receptor and TNF processing in T lymphocytes. J Exp Med 1995;181:1205-1210.
Mullberg J, Durie FH, Otten-Evans C, Alderson MR, Rose-John S, Cosman D, Black RA, Mohler KM. A mattaloprotease inhibitor
blocks shedding of the IL-6 recptor and the p60 TNF receptor. J Immunol 1994;155:5198-5205.
Drenth JPH, Haagsma CJ, Van Der Meer JWM, The International Hyper-IgD Study Group. Hyperimmunoglobulinemia D and
Periodic Fever Syndrome. Medicine 1994;73:133-144.
Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de Veld-Visser SD, Jong JGN, Beckmann JS, van der Meer JWM, Delpech M,
The International Hyper-IgD Study Group. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever
syndrome (letter). Nature Genetics 1999;22:178-181
Ficheiros Adicionais
Publicado
Como Citar
Edição
Secção
Licença
Este trabalho encontra-se publicado com a Licença Internacional Creative Commons Atribuição 4.0.
Direitos de Autor (c) 2023 Medicina Interna
Acesso livre
