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

American Journal of Human Genetics

Volumn 69, Issue 2, 2001, Pages 301-314

  Aksentijevich, Ivona ^a   Galon, Jérôme ^d   Soares, Miguel ^a   Mansfield, Elizabeth ^a   Hull, Keith ^a   Oh, Hye Hyun ^a   Goldbach Mansky, Raphaela ^c   Dean, Jane ^c   Athreya, Balu ^e   Reginato, Antonio J ^f   Henrickson, Michael ^g   Pons Estel, Bernardo ^h   O’Shea, John J ^b   Kastner, Daniel L ^a  

^a GMBB/NHGRI Building 49   (United States)

^b Arthritis and Rheumatism Branch   (United States)

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

^d INSTITUT CURIE   (France)

^e NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^f Department of Surgery   (United States)

^g Valley Children s Hospital   (United States)

^h Sanatorio Parque   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

TUMOR NECROSIS FACTOR RECEPTOR;

AMYLOIDOSIS; ARTHRALGIA; ARTICLE; CONJUNCTIVITIS; DNA POLYMORPHISM; FEVER; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MYALGIA; PERITONITIS; PHENOTYPE; PRIORITY JOURNAL; PYREXIA IDIOPATHICA; RASH;

EID: 0034926933     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321976     Document Type: Article

References (33)

1. Tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS) in a Dutch family: Evidence for a TNFRSF1A mutation with reduced penetrance
2. Crystal structure of the soluble human 55 kd TNF receptor-human TNFb complex: Implications for TNF receptor activation
3. Identification of novel polymorphisms in the human TNFR1 gene: Distribution in acute leukemia patients and healthy individuals
4. The Réunion paradox and the digenic model
5. The hereditary periodic fever syndromes: Molecular analysis of a new family of inflammatory diseases
6. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators
7. A domain in TNF receptors that mediates ligand independent receptor assembly and signaling
8. Variations on a theme: Cataloging human DNA sequence variation
9. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44
10. Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
11. A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family
12. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome: International Hyper-IgD Study Group
13. Periodic fevers enter the era of molecular diagnosis
14. A polymorphic microsatellite marker in the human p55 TNF receptor, CD 120a
15. A candidate gene for familial Mediterranean fever
16. Structure of the human TNF receptor 1 (p60) gene (TNFR1) and localization to chromosome 12p13
17. Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis
18. Identification of a locus on chromosome 1q44 for familial cold urticaria
19. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinemia and periodic fever syndrome
20. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
21. Autosomal-dominant periodic fever with amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene
22. A genome-wide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases
23. The new genomics: Global views of biology
24. An autosomal dominant periodic fever associated with AA amyloidosis in a North Indian family maps to distal chromosome 1q
25. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
26. Linkage of familial Hibernian fever to chromosome 12p13
27. The clinical spectrum of familial Hibernian fever: A 14-year follow-up study of the index and extended family
28. Gene localization for an autosomal dominant familial periodic fever to 12p13
29. Structures of the extracellular domain of the type I tumor necrosis factor receptor
30. The future of genetic studies of complex human diseases
31. Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene
32. Familial Hibernian fever
33. Clinical syndromes resembling familial Mediterranean fever