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词条 CD55 deficiency
释义

  1. References

{{Orphan|date=June 2018}}CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare disease characterized by complement-mediated autoimmune hemolysis and paroxysmal nocturnal hemoglobinuria. The protein CD55 (also called decay-accelerating factor) helps to regulate the complement cascade, part of the innate immune system, by regulating the amplification phase. When CD55 is absent, the complement system attacks red blood cells and causes them to be destroyed (hemolysis).[1][2]

CHAPLE syndrome is also characterized by angiopathic thrombosis and protein-losing enteropathy. It has an autosomal recessive pattern of inheritance.[2][3][4] Potential treatments include eculizumab.[2]

References

1. ^{{Cite news|url=https://rarediseases.org/physician-guide/paroxysmal-nocturnal-hemoglobinuria-pnh/|title=Paroxysmal Nocturnal Hemoglobinuria (PNH) - NORD (National Organization for Rare Disorders)|work=NORD (National Organization for Rare Disorders)|access-date=2018-01-07}}
2. ^{{Cite journal|last=Brodsky|first=Robert A.|date=2015-11-26|title=Complement in hemolytic anemia|url=http://www.bloodjournal.org/content/126/22/2459|journal=Blood|volume=126|issue=22|pages=2459–2465|doi=10.1182/blood-2015-06-640995|issn=0006-4971|pmid=26582375}}
3. ^{{Cite journal|last=Ozen|first=Ahmet|last2=Comrie|first2=William A.|last3=Ardy|first3=Rico C.|last4=Domínguez Conde|first4=Cecilia|last5=Dalgic|first5=Buket|last6=Beser|first6=Ömer F.|last7=Morawski|first7=Aaron R.|last8=Karakoc-Aydiner|first8=Elif|last9=Tutar|first9=Engin|date= 6 July 2017|title=CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis|journal=The New England Journal of Medicine|volume=377|issue=1|pages=52–61|doi=10.1056/NEJMoa1615887|issn=1533-4406|pmid=28657829}}
4. ^{{Cite journal|date=2017-10-11|title=CD55 Deficiency and Protein-Losing Enteropathy|url=http://www.nejm.org/doi/10.1056/NEJMc1710011|journal=New England Journal of Medicine|volume=377|issue=15|pages=1499–1500|doi=10.1056/nejmc1710011}}

1 : Rare diseases

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