Volume 130, Issue 1, Pages (January 2006)

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Date of download: 6/1/2016 From: Syndromes of Glucocorticoid Resistance Ann Intern Med. 1993;119(11): doi: /

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Volume 130, Issue 1, Pages 172-178 (January 2006) Severe TNF Receptor–Associated Periodic Syndrome Due to 2 TNFRSF1A Mutations Including a New F60V Substitution Stephan L. Haas, Peter Lohse, Wilhelm H. Schmitt, Ralf Hildenbrand, Mevlüt Karaorman, Manfred V. Singer, Ulrich Böcker Gastroenterology Volume 130, Issue 1, Pages 172-178 (January 2006) DOI: 10.1053/j.gastro.2005.09.014 Copyright © 2006 American Gastroenterological Association Terms and Conditions

Figure 1 Tissue section of the left colon demonstrating an acute peritonitis but a normal large bowel mucosa (H&E; original magnification: upper panel 40×, lower panel 100×). Gastroenterology 2006 130, 172-178DOI: (10.1053/j.gastro.2005.09.014) Copyright © 2006 American Gastroenterological Association Terms and Conditions

Figure 2 DNA sequence electropherogram of the patient’s TNFRSF1A exon 4 amplification product, illustrating the heterozygous G→A substitution (indicated by an arrow), which results in the replacement of arginine (CGG), amino acid 92, by glutamine (CAG). Gastroenterology 2006 130, 172-178DOI: (10.1053/j.gastro.2005.09.014) Copyright © 2006 American Gastroenterological Association Terms and Conditions

Figure 3 Sequence analysis of TNFRSF1A exon 3 in the affected patient. The electropherogram shows the heterozygous T→G replacement (indicated by an arrow), which leads to the substitution of phenylalanine (TTC) by valine (GTC) at amino acid position 60. Gastroenterology 2006 130, 172-178DOI: (10.1053/j.gastro.2005.09.014) Copyright © 2006 American Gastroenterological Association Terms and Conditions

Figure 4 Alignment of amino acid sequences encoded by exon 3 of the TNFRSF1A gene of 5 different species, demonstrating absolute sequence conservation of phenylalanine at position 60 (1, human; 2, mouse [Mus musculus]; 3, rat [Rattus norvegicus]; 4, cat [Felis catus]; 5, pig [Sus scrofa]). Gastroenterology 2006 130, 172-178DOI: (10.1053/j.gastro.2005.09.014) Copyright © 2006 American Gastroenterological Association Terms and Conditions

Figure 5 Pedigree of the patient and her family. Open symbols represent healthy individuals, while the solid symbol represents the affected subject. Question marks indicate that these individuals were not available for genotyping (wt, wild-type). Gastroenterology 2006 130, 172-178DOI: (10.1053/j.gastro.2005.09.014) Copyright © 2006 American Gastroenterological Association Terms and Conditions