Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis

  title={Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis},
  author={Jonas J.W. Kuiper and Jessica van Setten and Matthew Devall and Mircea Cretu-Stancu and Sanne Hiddingh and Roel A. Ophoff and Tom O A R Missotten and Mirjam E. J. van Velthoven and Anneke I. den Hollander and Carel B. Hoyng and Edward James and Emma Reeves and Miguel Cordero-Coma and Alex Fonollosa and Alfredo M Adan and Javier Martin and Bobby P. C. Koeleman and Joke H de Boer and Sara L. Pulit and Ana Citlali M{\'a}rquez and Timothy R D J Radstake},
  booktitle={Human molecular genetics},
Birdshot Uveitis (Birdshot) is a rare eye condition that affects HLA-A29-positive individuals and could be considered a prototypic member of the recently proposed 'MHC-I (major histocompatibility complex class I)-opathy' family. Genetic studies have pinpointed the endoplasmic reticulum aminopeptidase (ERAP1) and (ERAP2) genes as shared associations across MHC-I-opathies, which suggests ERAP dysfunction may be a root cause for MHC-I-opathies. We mapped the ERAP1 and ERAP2 haplotypes in 84 Dutch… CONTINUE READING
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