Article
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
The New England journal of medicine - 6 Jul 2017
Ozen Ahmet, Comrie William A, Ardy Rico C, Domínguez Conde Cecilia, Dalgic Buket, Beser Ömer F, Morawski Aaron R, Karakoc-Aydiner Elif, Tutar Engin, Baris Safa, Ozcay Figen, Serwas Nina K, Zhang Yu, Matthews Helen F, Pittaluga Stefania, Folio Les R, Unlusoy Aksu Aysel, McElwee Joshua J, Krolo Ana, Kiykim Ayca, Baris Zeren, Gulsan Meltem, Ogulur Ismail, Snapper Scott B, Houwen Roderick H J, Leavis Helen L, Ertem Deniz, Kain Renate, Sari Sinan, Erkan Tülay, Su Helen C, Boztug Kaan, Lenardo Michael J
Abstract excerpt
BACKGROUND: Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies. METHODS: We studied 11 patients with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation,...
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