Inflamm Bowel Dis. 2021 Sep 15;izab139. doi: 10.1093/ibd/izab139. Online ahead of print.

Brigitte Bader-Meunier ¹, Andreia Luís Martins ², Fabienne Charbit-Henrion ^3 4 5, Ulrich Meinzer ^4 6 7 8, Alexandre Belot ⁹, Laurence Cuisset ¹⁰, Albert Faye ^4 6, Sophie Georgin-Lavialle ^11 12 13, Pierre Quartier ^1 4, Vanessa Remy-Piccolo ¹⁴, Frank Ruemmele ^3 4, Florence Uettwiller ¹⁵, Jérôme Viala ^4 16 17, Nadine Cerf Bensussan ^4 5 17, Dominique Berrebi ^4 18 19, Isabelle Melki ^1 6 20

Author information

• ¹Department of Paediatric Immunology, Hematology, and Rheumatology, Groupe Hospitalier Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Centre for Rheumatic, Autoimmune and Systemic Diseases in Children, Assistance Publique-Hôpitaux de Paris, and Imagine Foundation, Paris, France.
• ²Pediatric Department, Professor Doutor Fernando Fonseca Hospital, Amadora, Portugal.
• ³Department of Pediatric Gastroenterology, Hepatology and Nutrition, Groupe Hospitalier Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
• ⁴Université de Paris, Paris, France.
• ⁵Laboratory of Intestinal Immunity, Imagine Institute, Paris, France.
• ⁶Department of General Paediatric, Infectious Diseases and Internal Medicine, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Centre for Rheumatic, Autoimmune and Systemic Diseases in Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
• ⁷Center for Research on Inflammation, Paris, France.
• ⁸Biology and Genetics of Bacterial Cell Wall Unit, Pasteur Institute, Paris, France.
• ⁹Department of Pediatric Nephrology, Rheumatology and Dermatology and Reference Centre for Rheumatic, Autoimmune and Systemic Diseases in Children, Hôpital Femme Mère Enfant, Bron, Lyon,France.
• ¹⁰Department of Molecular Genetics, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.
• ¹¹Sorbonne University, Paris, France.
• ¹²Department of Internal Medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; National Reference Center of Autoinflammatory Disease and AA Amyloidosis.
• ¹³Laboratoire Inserm, Paris, France.
• ¹⁴Department of General Paediatrics, Hôpital Nord-Ouest, Villefranche, France.
• ¹⁵Paediatric Rheumatology Unit, Centre Hospitalier Universitaire de Clocheville, Tours, France.
• ¹⁶Department of Paediatric Gastro-enterology and Nutrition, Hôpital Universitaire Robert-Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.
• ¹⁷INSERM UMR1149, Paris, France.
• ¹⁸Department of Paediatric Pathology, Hôpital Robert-Debré, Hôpital Universitaire Robert-Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.
• ¹⁹Paris University, Paris, France.
• ²⁰Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France.

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.