CHAPLE syndrome

名词 n.

英文释义

名词 n.
  1. A rare genetic disorder of the immune system, caused by mutations of the complement regulator CD55 gene, and characterized by severe protein-losing enteropathy leading to hypoproteinemia. uncountable

词源

CHAPLE stands for "CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and severe protein-losing enteropathy".
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