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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.
J Rheumatol 2004; 31(12):2519-22JR

Abstract

An adolescent boy had had recurrent episodes of fever, abdominal pain, and arthralgias since the age of 7 years. Progressive renal failure due to renal amyloidosis developed, leading to renal transplant at the age of 14.5 years. Five years later, he developed AA amyloidosis in the transplant as well as the thyroid gland. His father had had similar symptoms including systemic amyloidosis since the age of 6 years. DNA sequence analysis revealed a heterozygous mutation in the TNFRSF1A (TNFa-receptor 1) gene (T50M) in both father and son causing tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Previous phenotype/genotype analyses have proposed that this mutation is usually not associated with the occurrence of amyloidosis. This difference in the clinical course in different families may indicate a strong influence of modifier genes. Treatment with a TNFRSF1B fusion protein TNF antagonist (etanercept) favorably influenced the disease course.

Authors+Show Affiliations

Department of Pediatric Nephrology, Pulmonology and Immunology, Humboldt University, Berlin, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15570662

Citation

Kallinich, Tilmann, et al. "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." The Journal of Rheumatology, vol. 31, no. 12, 2004, pp. 2519-22.
Kallinich T, Briese S, Roesler J, et al. 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. J Rheumatol. 2004;31(12):2519-22.
Kallinich, T., Briese, S., Roesler, J., Rudolph, B., Sarioglu, N., Blankenstein, O., ... Haffner, D. (2004). 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. The Journal of Rheumatology, 31(12), pp. 2519-22.
Kallinich T, et al. 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. J Rheumatol. 2004;31(12):2519-22. PubMed PMID: 15570662.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Kallinich,Tilmann, AU - Briese,Sonia, AU - Roesler,Joachim, AU - Rudolph,Birgit, AU - Sarioglu,Nanette, AU - Blankenstein,Oliver, AU - Keitzer,Rolf, AU - Querfeld,Uwe, AU - Haffner,Dieter, PY - 2004/12/1/pubmed PY - 2005/3/11/medline PY - 2004/12/1/entrez SP - 2519 EP - 22 JF - The Journal of rheumatology JO - J. Rheumatol. VL - 31 IS - 12 N2 - An adolescent boy had had recurrent episodes of fever, abdominal pain, and arthralgias since the age of 7 years. Progressive renal failure due to renal amyloidosis developed, leading to renal transplant at the age of 14.5 years. Five years later, he developed AA amyloidosis in the transplant as well as the thyroid gland. His father had had similar symptoms including systemic amyloidosis since the age of 6 years. DNA sequence analysis revealed a heterozygous mutation in the TNFRSF1A (TNFa-receptor 1) gene (T50M) in both father and son causing tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Previous phenotype/genotype analyses have proposed that this mutation is usually not associated with the occurrence of amyloidosis. This difference in the clinical course in different families may indicate a strong influence of modifier genes. Treatment with a TNFRSF1B fusion protein TNF antagonist (etanercept) favorably influenced the disease course. SN - 0315-162X UR - https://www.unboundmedicine.com/medline/citation/15570662/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_ L2 - http://www.jrheum.org/cgi/pmidlookup?view=long&pmid=15570662 DB - PRIME DP - Unbound Medicine ER -