Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Bader-Meunier B,Martins A,Charbit-Henrion F,Meinzer U,Belot A,Cuisset L,Faye A,Georgin-Lavialle S,Quartier P,Remy-Piccolo V,Ruemmele F,Uettwiller F,Viala J,Cerf Bensussan N,Berrebi D,Melki I
Source :
2021 Sep 15
Pmid / DOI:
34525209
Abstract
Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology. Anti-interleukin-1 therapy may be efficacious in these patients with monogenic very-early-onset IBD.KEYWORDSchildren, genetics, mevalonate kinase deficiency, very-early-onset inflammatory bowel disease© 2021 Crohn’s & Colitis Foundation. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.