An inflammatory, familial, inclusion body myositis with autoimmune features and a phenotype identical to sporadic inclusion body myositis. Studies in three families

K Sivakumar
1997 Brain  
We describe the occurrence of an inflammatory inclusion the presence of the DR3 allele (DRB1*0301/0302) in all seven patients. The combination of the clinical, histological, body myositis in siblings of a single generation in three separate families. The disease in this total of seven patients immunopathological and immunogenetic features indicate that these patients have a disease identical to sporadic was characterized by selective and early involvement of forearm and finger flexors,
more » ... r flexors, confirmed by MRI, and inclusion body myositis (s-IBM). We conclude that the classic, inflammatory, s-IBM can also occur in families weakness of the quadriceps, triceps and foot extensors. Muscle biopsies in at least two members from each family (familial inclusion body myositis), in a pattern analogous to the familial occurrence of other autoimmune neuro-showed endomysial inflammation, red-rimmed vacuoles, intracellular amyloid deposition and 15-18-nm tubulo-logical diseases such as myasthenia gravis and multiple sclerosis. These observations strengthen the view that s-IBM filaments within the vacuolated muscle fibres. Immunocytochemistry on serial muscle biopsy sections demonstrated behaves like other autoimmune diseases and has disease susceptibility linked to the DR3 allele. an abundance of CD8ϩ cells invading non-necrotic, MHC-I-expressing muscle fibres. Immunogenetic studies showed
doi:10.1093/brain/120.4.653 pmid:9153127 fatcat:dukmxkn3zrbcjamnz6yky56ogq