Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature
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TLDR
This review calls for a consistent disease nomenclature and presents a reconciling hypothesis which places different sequence variants within the autoinflammatory disease continuum, which should help to facilitate communication between health professionals and promote personalised patient care.Abstract:
Over 15 years have passed since the discovery of the first autoinflammatory gene, MEFV, responsible for familial Mediterranean fever. The identification of another gene, TNFRSF1A, in 1999 led to the concept of autoinflammation which characterises rheumatological conditions triggered by a defective innate immunity. Substantive progress has been made since then with the identification of 18 autoinflammatory genes accounting for up to 24 disease entities showing overlapping symptoms. The accumulation of studies reporting patients with missing or excess mutations as compared with expected numbers favours the hypothesis that these diseases are distributed along a continuum ranging from monogenic to multifactorial conditions, rather than featuring only classical modes of inheritance. Moreover, the probable interactions of environmental and epigenetic factors further obscure our understanding of the mechanisms underlying the phenotypic expression of patients. This review explores the history of autoinflammatory gene discovery, discusses the nosological disparities stemming from the clinical versus pathophysiological definition of autoinflammatory diseases and summarises various inheritance patterns. This review calls for a consistent disease nomenclature and presents a reconciling hypothesis which places different sequence variants within the autoinflammatory disease continuum. Integrating these new concepts should help to facilitate communication between health professionals and promote personalised patient care.read more
Citations
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The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach
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TL;DR: It is the first statistical demonstration that heterozygosity is not responsible for classical Mendelian FMF per se, but constitutes a susceptibility factor for clinically-similar multifactorial forms of the disease.
References
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Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
Ivona Aksentijevich,Michael Centola,Zuoming Deng,Raman Sood,James E. Balow,Geryl Wood,Nurit Zaks,Elizabeth Mansfield,Xinguo Chen,S. Eisenberg,Anil Vedula,Neta Shafran,Nina Raben,Elon Pras,M. Pras,DL Kastner,Trevor Blake,Andreas D. Baxevanis,Christiane M. Robbins,David B. Krizman,Francis S. Collins,Paul P. Liu,Xuejun Chen,M. Shohat,Melanie Hamon,T. L. Kahan,A. Cercek,J. I. Rotter,N. FischelGhodsian,N. Richards,D. A. Shelton,D.L. Gumucio,Y. Yokoyama,Marie Mangelsdorf,A. Orsborn,Robert I. Richards,Darrell O. Ricke,J. M. Buckingham,Robert K. Moyzis,L. L. Deaven,N. A. Doggett +40 more
TL;DR: The cloning of the FMF gene promises to shed light on the regulation of acute inflammatory responses and is described as a member of a family of nuclear factors homologous to the Ro52 autoantigen.
Journal ArticleDOI
Criteria for the diagnosis of familial mediterranean fever
Avi Livneh,Pnina Langevitz,Deborah Zemer,Nurit Zaks,Salim Kees,Tzvi Lidar,Amiel Migdal,Shai Padeh,Mordechai Pras +8 more
TL;DR: The proposed new sets of criteria were highly sensitive and specific, and could be used to readily diagnose FMF and to distinguish FMF from other periodic febrile diseases.
Journal ArticleDOI
A candidate gene for familial Mediterranean fever
Alain Bernot,Christian Clepet,Corinne Dasilva,Catherine Devaud,Jean-Louis Petit,Christophe Caloustian,Corinne Cruaud,Delphine Samson,Françoise Pulcini,Jean Weissenbach,Roland Heilig,Cécile Notanicola,Cécile Domingo,Michael Rozenbaum,Eldad Ben-Chetrit,Rezzan Topaloglu,Marie Dewalle,Christiane Dross,Philippe Hadjari,Madeleine Dupont,Jacques Demaille,Isabelle Touitou,Nizar Smaoui,Brigitte Nedelec,Jean-Philippe Mery,Habiba Chaabouni,Marc Delpech,Gilles Grateau +27 more
TL;DR: A minimal co-segregating region of 60 kb containing the FMF gene (MEFV) is defined and one of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophilin.
Journal ArticleDOI
Familial Mediterranean fever. A survey of 470 cases and review of the literature
TL;DR: Familial Mediterranean fever is a genetic disorder restricted to certain ethnic groups and marked by the sporadic appearance of acute attacks and the insidious development of amyloidosis; the gamut of time-relationship between these two manifestations are best explained as expressions of a single pleiotropic gene.
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