Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis

Journal of Rheumatology

Volumn 31, Issue 12, 2004, Pages 2519-2522

  Kallinich, Tilmann ^a   Briese, Sonia ^a   Roesler, Joachim ^c   Rudolph, Birgit ^a   Sarioglu, Nanette ^a   Blankenstein, Oliver ^b   Keitzer, Rolf ^a   Querfeld, Uwe ^a   Haffner, Dieter ^a,b  

^a Dept Pediat Pulmonology/Immunol ^*

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

Amyloidosis; Etanercept; Hereditary periodic fever syndromes; Nonsteroidal; Renal transplant

Indexed keywords

AZATHIOPRINE; ETANERCEPT; PREDNISOLONE; TACROLIMUS; TUMOR NECROSIS FACTOR ALPHA RECEPTOR; TUMOR NECROSIS FACTOR ALPHA RECEPTOR 1; TUMOR NECROSIS FACTOR ANTIBODY; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ADULT; AMYLOIDOSIS; ARTHRALGIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; DISEASE ASSOCIATION; DNA SEQUENCE; FEVER; GENE; GENE MUTATION; GENOTYPE; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; KIDNEY AMYLOIDOSIS; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THYROID GLAND; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

ADULT; AMYLOIDOSIS, FAMILIAL; DNA MUTATIONAL ANALYSIS; FAMILIAL MEDITERRANEAN FEVER; FOLLOW-UP STUDIES; GRAFT REJECTION; HUMANS; IMMUNOGLOBULIN G; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; MALE; MUTATION; PEDIGREE; RECEPTORS, TUMOR NECROSIS FACTOR; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

EID: 10044298526     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133-44.
2. Hull KM, Drewe E, Aksentijevich I, et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine Baltimore 2002;81:349-68.
3. Aksentijevich I, Galon J, Soares M, et al. 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. Am J Hum Genet 2001;69:301-14.
4. Rocken C, Shakespeare A. Pathology, diagnosis and pathogenesis of AA amyloidosis. Virchows Arch 2002;440:111-22.
5. Hamed G, Heffess CS, Shmookler BM, Wenig BM. Amyloid goiter. A clinicopathologic study of 14 cases and review of the literature. Am J Clin Pathol 1995;104:306-12.
6. Ozdemir BH, Akman B, Ozdemir FN. Amyloid goiter in familial Mediterranean fever: a clinicopathologic study of 10 cases. Ren Fail 2001;23:659-67.
7. Sbai A, Wechsler B, Leenhardt L, et al. Amyloid goiter as the initial manifestation of systemic amyloidosis due to familial Mediterranean fever with homozygous MEFV mutation. Thyroid 2001;11:397-400.
8. Jadoul M, Dode C, Cosyns JP, et al. Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene. Kidney Int 2001;59:1677-82.
9. Rosen-Wolff A, Kreth HW, Hofmann S, et al. Periodic fever (TRAPS) caused by mutations in the TNF alpha receptor 1 (TNFRSF1A) gene of three German patients. Eur J Haematol 2001;67:105-9.
10. Dode C, Andre M, Bienvenu T, et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002;46:2181-8.
11. Cazaneuve C, Ajrapetyan H, Papin S, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 2000;67:1136-43.
12. Gershoni-Baruch R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A. The contribution of genotype at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum 2003;48:1149-55.
13. Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology Oxford 2003;42:235-9.
14. Drewe E, McDermott EM, Powell RJ. Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome. N Engl J Med 2000;343:1044-5.
15. Cordell JL, Falini B, Erber WN, et al. Immunoenzymatic labeling of monoclonal antibodies using immune complexes of alkaline phosphatase and monoclonal anti-alkaline phosphatase (APAAP complexes). J Histochem Cytochem 1984;32:219-29.