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Abstract

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.

Tilmann Kallinich, Sonia Briese, Joachim Roesler, Birgit Rudolph, Nanette Sarioglu, Oliver Blankenstein, Rolf Keitzer, Uwe Querfeld and Dieter Haffner
The Journal of Rheumatology December 2004, 31 (12) 2519-2522;
Tilmann Kallinich
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Sonia Briese
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Joachim Roesler
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Birgit Rudolph
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Nanette Sarioglu
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Oliver Blankenstein
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Rolf Keitzer
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Uwe Querfeld
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Dieter Haffner
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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.

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The Journal of Rheumatology: 31 (12)
The Journal of Rheumatology
Vol. 31, Issue 12
1 Dec 2004
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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.
Tilmann Kallinich, Sonia Briese, Joachim Roesler, Birgit Rudolph, Nanette Sarioglu, Oliver Blankenstein, Rolf Keitzer, Uwe Querfeld, Dieter Haffner
The Journal of Rheumatology Dec 2004, 31 (12) 2519-2522;

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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.
Tilmann Kallinich, Sonia Briese, Joachim Roesler, Birgit Rudolph, Nanette Sarioglu, Oliver Blankenstein, Rolf Keitzer, Uwe Querfeld, Dieter Haffner
The Journal of Rheumatology Dec 2004, 31 (12) 2519-2522;
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