Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

Abstract Herein, we report the first identification of biallelic‐inherited mutations in ALPI as a Mendelian cause of inflammatory bowel disease in two unrelated patients. ALPI encodes for intestinal phosphatase alkaline, a brush border metalloenzyme that hydrolyses phosphate from the lipid A moiety...

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Bibliographic Details
Main Authors: Marianna Parlato, Fabienne Charbit‐Henrion, Jie Pan, Claudio Romano, Rémi Duclaux‐Loras, Marie‐Helene Le Du, Neil Warner, Paola Francalanci, Julie Bruneau, Marc Bras, Mohammed Zarhrate, Bernadette Bègue, Nicolas Guegan, Sabine Rakotobe, Nathalie Kapel, Paola De Angelis, Anne M Griffiths, Karoline Fiedler, Eileen Crowley, Frank Ruemmele, Aleixo M Muise, Nadine Cerf‐Bensussan
Format: Article
Language:English
Published: Springer Nature 2018-04-01
Series:EMBO Molecular Medicine
Subjects:
inflammatory bowel diseases
intestinal phosphatase alkaline
monogenic disease
Online Access:https://doi.org/10.15252/emmm.201708483

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