Literature DB >> 1953824

Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome.

G S Hoffman1, J D Filie, H R Schumacher, E Ortiz-Bravo, M G Tsokos, J C Marini, G S Kerr, Q H Ling, D E Trentham.   

Abstract

A unique patient with type VIII Ehlers-Danlos syndrome and cutaneous vasculitis, resorptive osteolysis, and cardiac valvular disease is described. Collagen analyses identified morphologic and physical abnormalities of type I collagen. The patient's T lymphocytes could be propagated in vitro with type I collagen and produced a 60-kd lymphokine that bound this protein. Cellular autoimmunity to type I collagen may be responsible for this patient's intractable clinical condition.

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Year:  1991        PMID： 1953824     DOI： 10.1002/art.1780341119

Source DB:  PubMed          Journal:  Arthritis Rheum        ISSN： 0004-3591


  4 in total

1.  Familial cutaneous vasculopathy of German shepherds: clinical, genetic and preliminary pathological and immunological studies.

Authors:  J A Weir; J A Yager; J L Caswell; W M Parker; I B Johnstone; P K Basrur; C Emms
Journal:  Can Vet J       Date:  1994-12       Impact factor: 1.008

2.  Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

Authors:  Nazneen Rahman; Melanie Dunstan; M Dawn Teare; Sandra Hanks; Jenny Douglas; Kim Coleman; William E Bottomly; Mary E Campbell; Britta Berglund; Magnus Nordenskjöld; Bengt Forssell; Nigel Burrows; Peter Lunt; Ian Young; Nigel Williams; Graham R Bignell; P Andrew Futreal; F Michael Pope
Journal:  Am J Hum Genet       Date:  2003-05-29       Impact factor: 11.025

3.  Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.

Authors:  Eyal Reinstein; Celia Dawn DeLozier; Ziv Simon; Serguei Bannykh; David L Rimoin; Cynthia J Curry
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

4.  Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.

Authors:  Ines Kapferer-Seebacher; Quinten Waisfisz; Sylvia Boesch; Marieke Bronk; Peter van Tintelen; Elke R Gizewski; Rebekka Groebner; Johannes Zschocke; Marjo S van der Knaap
Journal:  Neurogenetics       Date:  2018-12-08       Impact factor: 2.660
  4 in total

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