KEGG DISEASE: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy

KEGG

DISEASE: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy

Entry

H02904                      Disease

Name

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy

Description

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by early-onset gastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, and hypogammaglobulinemia. It has been reported that mutations in CD55 cause this syndrome. CD55 encodes the decay-accelerating factor (DAF), a widely expressed glycosylphosphatidylinositol-linked membrane protein. DAF regulates complement activation by inhibiting C3 and C5 cleavage and activation, thus protecting cells against complement-induced self-injury.

Category

Primary immunodeficiency

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H02904  Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy

Gene

CD55 [HSA:1604] [KO:K04006]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Kurolap A, Eshach-Adiv O, Hershkovitz T, Paperna T, Mory A, Oz-Levi D, Zohar Y, Mandel H, Chezar J, Azoulay D, Peleg S, Half EE, Yahalom V, Finkel L, Weissbrod O, Geiger D, Tabib A, Shaoul R, Magen D, Bonstein L, Mevorach D, Baris HN

Title

Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.

Journal

N Engl J Med 377:87-89 (2017)
DOI:10.1056/NEJMc1707173

Reference

Authors

Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ

Title

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

Journal

N Engl J Med 377:52-61 (2017)
DOI:10.1056/NEJMoa1615887

LinkDB

» Japanese version

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