Clinical and genetic aspects of the hereditary periodic fever syndromes

被引：48

作者：

Grateau, G

机构：

[1] Hop Hotel Dieu, Assistance Publ Hop Paris, Serv Med Interne, F-75181 Paris 04, France

[2] Inst Cochin, INSERM, U567, Lab Genet & Physiopathol Malad Inflammatoires & M, Paris, France

来源：

RHEUMATOLOGY | 2004年 / 43卷 / 04期

关键词：

amyloidosis; tumour necrosis factor (TNF); TNF inhibitors; hereditary fever; familial Mediterranean fever (FMF); TNF receptor-associated periodic syndrome (TRAPS); hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS); Muckle-Wells syndrome; familial cold urticaria (FCU); familial cold autoinflammatory syndrome (FCAS); chronic infantile neurological cutaneousand articular (CINCA) syndrome;

D O I：

10.1093/rheumatology/keh157

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hereditary periodic fever syndromes are a group of diseases characterized by intermittent bouts of clinical inflammation with focal organ involvement, mainly of the abdomen, musculoskeletal system and skin. The most frequent is familial Mediterranean fever, which affects patients of Mediterranean descent all over the world. Three other types have recently been characterized clinically and genetically. A thorough diagnosis is warranted, as clinical and therapeutic management is specific for each of these diseases. The underlying mechanisms of these inflammatory diseases appear to be specific for each type, involving so far unknown proteins, and have already opened new avenues in our understanding of the inflammatory response.

引用

页码：410 / 415

页数：6

共 57 条

[1] Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes [J].

Aganna, E ;

Hammond, L ;

Hawkins, PN ;

Aldea, A ;

McKee, SA ;

van Amstel, HKP ;

Mischung, C ;

Kusuhara, K ;

Saulsbury, FT ;

Lachmann, HJ ;

Bybee, A ;

McDermott, EM ;

La Regina, M ;

Arostegui, JI ;

Campistol, JM ;

Worthington, S ;

High, KP ;

Molloy, MG ;

Baker, N ;

Bidwell, JL ;

Castañer, JL ;

Whiteford, ML ;

Janssens-Korpola, PL ;

Manna, R ;

Powell, RJ ;

Woo, P ;

Solis, P ;

Minden, K ;

Frenkel, J ;

Yagüe, J ;

Mirakian, RM ;

Hitman, GA ;

McDermott, MF .

ARTHRITIS AND RHEUMATISM, 2003, 48 (09) :2632-2644

[2] Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population [J].

Akarsu, AN ;

Saatci, U ;

Ozen, S ;

Bakkaloglu, A ;

Besbas, N ;

Sarfarazi, M .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (07) :573-578

[3] 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 [J].

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 .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (02) :301-314

[4] De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID) -: A new member of the expanding family of pyrin-associated autoinflammatory diseases [J].

Aksentijevich, I ;

Nowak, M ;

Mallah, M ;

Chae, JJ ;

Watford, WT ;

Hofmann, SR ;

Stein, L ;

Russo, R ;

Goldsmith, D ;

Dent, P ;

Rosenberg, HF ;

Austin, F ;

Remmers, EF ;

Balow, JE ;

Rosenzweig, S ;

Komarow, H ;

Shoham, NG ;

Wood, G ;

Jones, J ;

Mangra, N ;

Carrero, H ;

Adams, BS ;

Moore, TL ;

Schikler, K ;

Hoffman, H ;

Lovell, DJ ;

Lipnick, R ;

Barron, K ;

O'Shea, JJ ;

Kastner, DL ;

Goldbach-Mansky, R .

ARTHRITIS AND RHEUMATISM, 2002, 46 (12) :3340-3348

[5]

Al-Alami JR, 2003, SAUDI MED J, V24, P1055

[6] Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept [J].

Arkwright, PD ;

McDermottt, MF ;

Houten, SM ;

Frenkel, J ;

Waterhan, HR ;

Aganna, E ;

Hammond, LJ ;

Mirakian, RM ;

Tomlin, P ;

Vijaydurai, PI ;

Cant, AJ .

CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2002, 130 (03) :484-488

[7] Colchicine: 1998 update [J].

Ben-Chetrit, E ;

Levy, M .

SEMINARS IN ARTHRITIS AND RHEUMATISM, 1998, 28 (01) :48-59

[8] Familial Mediterranean fever [J].

Ben-Chetrit, E ;

Levy, M .

LANCET, 1998, 351 (9103) :659-664

[9] Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever [J].

Cazeneuve, C ;

Ajrapetyan, H ;

Papin, S ;

Roudot-Thoraval, F ;

Geneviève, D ;

Mndjoyan, E ;

Papazian, M ;

Sarkisian, A ;

Babloyan, A ;

Boissier, B ;

Duquesnoy, P ;

Kouyoumdjian, JC ;

Girodon-Boulandet, E ;

Grateau, G ;

Sarkisian, T ;

Amselem, S .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (05) :1136-1143

[10] MEFV-gene analysis in Armenian patients with familial Mediterranean fever:: Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype -: Genetic and therapeutic implications [J].

Cazeneuve, C ;

Sarkisian, T ;

Pêcheux, C ;

Dervichian, M ;

Nédelec, B ;

Reinert, P ;

Ayvazyan, A ;

Kouyoumdjian, JC ;

Ajrapetyan, H ;

Delpech, M ;

Goossens, M ;

Dodé, C ;

Grateau, G ;

Amselem, S .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) :88-97

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