About: CD55 deficiency

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CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)." The disorder usually manifests in childhood and can be life-threatening. This condition was described by Özen, et al. in 2017.

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  • CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)." The disorder usually manifests in childhood and can be life-threatening. This condition was described by Özen, et al. in 2017. (en)
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dbp:alt
  • Brief summary of medical condition (en)
dbp:causes
  • Genetic (en)
dbp:diagnosis
  • Genetic testing (en)
dbp:duration
  • Lifelong (en)
dbp:name
  • CHAPLE Syndrome (en)
dbp:specialty
  • Medical genetics (en)
dbp:symptoms
  • Gastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, hypogammaglobulinemia, intestinal lymphangiectasia [1,2] (en)
dbp:treatment
  • Eculizumab (en)
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  • CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)." The disorder usually manifests in childhood and can be life-threatening. This condition was described by Özen, et al. in 2017. (en)
rdfs:label
  • CD55 deficiency (en)
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