Year: 2017
Type: article
Abstract: Loss of CD55 in Eculizumab-Responsive Protein-Losing EnteropathyTo the Editor: Protein-losing enteropathy usually manifests as peripheral and visceral edema due to hypoalbuminemia. 1 We followed a large consanguineous Muslim-Arab family that included six patients who had protein-losing enteropathy associated with hypercoagulability (Fig. S1A in the Supplementary Appendix, available with the full text of this letter at NEJM.org).Disease onset was between 10 months and 3 years of age, and the patients presented with generalized edema, severe hypoalbuminemia (reaching 0.5 g per deciliter), diarrhea, and abdominal complications, with repeated thrombotic events occurring in three of them.Supportive management of the disorder with a low-fat diet and supplementation with medium-chain triglycerides only partially improved the nutritional status of the patients who adhered to the dietary regimen.Two patients died from disease complications.Additional clinical data are available in the Supplementary Appendix.Whole-exome sequencing analysis revealed a homozygous frameshift variant in CD55 (GenBank number, NM_001114752 .1), c.43del (p.Leu15Serfs*46) (ClinVar accession number, SCV000579315).The variant segregated with the disease phenotype in the extended family; that is, only patients were homozygotic for the variant, whereas healthy family members either were heterozygotic for the variant or had the wildtype gene.Flow cytometric and hemagglutination studies revealed markedly decreased binding of CD55 antigens on patients' red cells and granulocytes, as compared with those of unaffected persons.Abnormal complement activation was observed in patients with CD55 deficiency; that is, membrane attack complex (MAC) deposition
Source: New England Journal of Medicine
DOI: 10.1056/nejmc1707173
Authors: Alina Kurolap, Orly Eshach-Adiv, Tova Hershkovitz, Tamar Paperna, Adi Mory, Danit Oz-Levi, Yaniv Zohar, Hanna Mandel, Judith Chezar, David Azoulay, Sarit Peleg, Elizabeth E. Half, Vered Yahalom, Lilach Finkel, Omer Weissbrod, Dan Geiger, Adi Tabib, Ron Shaoul, Daniella Magen, Lilach Bonstein, Dror Mevorach, Hagit N. Baris
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2724335952