CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis

CD55 prevents convertase enzyme formation in the complement cascade, acting as a brake on complement activation. Inactivating mutations in CD55 result in hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy.

Saved in:

Bibliographic Details
Published in:	The New England journal of medicine Vol. 377; no. 1; pp. 52 - 61
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	United States Massachusetts Medical Society 06-07-2017
Subjects:	Age Allergies CD55 Antigens - blood CD55 Antigens - genetics Cell activation Child Child, Preschool Complement activation Complement Activation - drug effects Complement Activation - genetics Complement component C5a Complement Inactivating Agents - pharmacology Complement System Proteins - metabolism Decay-accelerating factor Diarrhea Edema Female Gastroenterology Gastrointestinal diseases Gastrointestinal tract Hepatology Hereditary diseases Heredity Homeostasis Homozygote Humans Immunoglobulin A - blood Immunology Infant Infectious diseases Inflammation Intestine Intestine, Small - pathology Lymphatic system Lymphocytes T Malabsorption Male Medical research Mutation Pain Pedigree Protein deficiency Protein-Losing Enteropathies - complications Protein-Losing Enteropathies - genetics Proteins Statistics, Nonparametric Syndrome T-Lymphocytes - metabolism Thromboembolism Thrombosis Thrombosis - genetics Ankara Turkey Istanbul Turkey Netherlands Turkey
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	CD55 prevents convertase enzyme formation in the complement cascade, acting as a brake on complement activation. Inactivating mutations in CD55 result in hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally to this work.
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMoa1615887