Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report.
Yumi TsuchidaYasuo NagafuchiTomoko UeharaHisato SuzukiMamiko YamadaMasanori KonoHiroaki HatanoHirofumi ShodaKeishi FujioKenjiro KosakiPublished in: Medicine (2022)
We herein report a patient with RA with compound heterozygous variants in the COL11A2 gene. Autoantibodies against type XI collagen are detected in the sera of patients with RA, suggesting the possibility that type XI collagen may be involved in the pathogenesis of RA as an autoantigen. The hearing loss and osteoarthritis in this patient may be due to the compound heterozygous variants in the COL11A2 gene, and the conformational changes induced by the variants may have changed the immunogenicity of type XI collagen, leading to the development of RA.
Keyphrases
- copy number
- rheumatoid arthritis
- disease activity
- hearing loss
- genome wide
- case report
- early onset
- ankylosing spondylitis
- interstitial lung disease
- systemic lupus erythematosus
- wound healing
- genome wide identification
- multiple sclerosis
- molecular dynamics simulations
- molecular dynamics
- systemic sclerosis
- transcription factor
- knee osteoarthritis
- idiopathic pulmonary fibrosis