title: Ataxia Telangiectasia and Juvenile Idiopathic Arthritis.
abstract: We report, to the best of our knowledge, the first case of a child with typical ataxia telangiectasia (A-T) who developed juvenile idiopathic arthritis (JIA). The patient was a 15-year-old boy with A-T who presented with noninfectious polyarthritis. A-T is a rare, autosomal recessive disorder characterized by cerebellar atrophy, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and predisposition to cancer. The gene responsible for A-T is the A-T mutated (ATM) gene. Clinical manifestations of the disorder are the result of lacking ATM protein, which is involved in DNA repair, apoptosis, various checkpoints in the cell cycle, gene regulation, translation, initiation, and telomere maintenance. There are a few articles that describe deficiency of the DNA repair enzyme, ATM, in rheumatoid arthritis, but the connection between the absence of ATM protein and JIA has not been presented or studied yet. JIA is a heterogeneous group of diseases characterized by arthritis of unknown origin with onset before the age of 16 years. It is the most common childhood chronic rheumatic disease and causes significant disability. Because immunodeficiency can be part of A-T, infectious arthritis can occur, but chronic autoimmune arthritis in these patients is rare. We report a rare case of a 15-year-old boy with A-T and JIA. This case shows a possible relationship between altered function of ATM protein and the pathogenesis of JIA.
authors.affiliation: Children's Hospital Zagreb, Zagreb, Croatia agnezamarija@gmail.com.
authors.forename: Agneza Marija
authors.initials: AM
authors.lastname: Pasini
authors.affiliation: Children's Hospital Zagreb, Zagreb, Croatia.
authors.forename: Alenka
authors.initials: A
authors.lastname: Gagro
authors.affiliation: Children's Hospital Zagreb, Zagreb, Croatia.
authors.forename: Goran
authors.initials: G
authors.lastname: Roić
authors.affiliation: Children's Hospital Zagreb, Zagreb, Croatia.
authors.forename: Ozren
authors.initials: O
authors.lastname: Vrdoljak
authors.affiliation: Children's Hospital Zagreb, Zagreb, Croatia.
authors.forename: Lucija
authors.initials: L
authors.lastname: Lujić
authors.affiliation: Children's Hospital Zagreb, Zagreb, Croatia.
authors.forename: Matija
authors.initials: M
authors.lastname: Žutelija-Fattorini
mesh_terms: D000293:Adolescent; D001171:Arthritis, Juvenile / Q000150:complications* / Q000175:diagnosis; D001260:Ataxia Telangiectasia / Q000150:complications*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D011877:Radionuclide Imaging