Symptoms Related to Tumor Necrosis Factor Receptor 1-associated Periodic Syndrome, Multiple Sclerosis, and Severe Rheumatoid Arthritis in Patients Carrying the TNF Receptor Superfamily 1A D12E/p.Asp41Glu Mutation

被引：4

作者：

Havla, Joachim ^{[1
]}

Lohse, Peter ^{[2
]}

Ann Gerdes, Lisa ^{[1
]}

Hohlfeld, Reinhard ^{[1
]}

Kuempfel, Tania ^{[1
]}

机构：

[1] Univ Munich, Inst Clin Neuroimmunol, D-81377 Munich, Germany

[2] Univ Munich, Dept Clin Chem, D-81377 Munich, Germany

来源：

JOURNAL OF RHEUMATOLOGY | 2013年 / 40卷 / 03期

关键词：

TNF RECEPTOR SUPERFAMILY 1A GENE; RHEUMATOID ARTHRITIS; PHENOTYPE; TNF RECEPTOR 1-ASSOCIATED PERIODIC SYNDROME; GENOTYPE; MULTIPLE SCLEROSIS; TNFRSF1A; MUTANTS;

D O I：

10.3899/jrheum.120729

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective. Tumor necrosis factor (TNF) receptor 1 associated periodic syndrome (TRAPS) is an autoinflammatory disorder caused by autosomal dominantly inherited mutations in the TNF receptor superfamily 1A (TNFRSF1A) gene. The D12E substitution has been described only once to date, in a 4-year-old boy with fever. Methods. For DNA sequence analysis of the TNFRSF1A gene, genomic DNA was isolated, amplified by PCR, purified, and sequenced. Results. We describe 3 families (8 subjects) with the TNFRSF1A D12E substitution and TRAPS-related symptoms, in 4 cases associated with the autoimmune diseases multiple sclerosis and rheumatoid arthritis. Conclusion. The clinical phenotype might be associated with the TNFRSF1A D12E mutation. There is a close pathophysiological relationship between TNF signaling and autoimmune disorders. (First Release Jan 15 2013; J Rheumatol 2013;40:261-4; doi:10.3899/jrheum.120729)

引用

页码：261 / 264

页数：4

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