411 REFERENCE · Wiktionary
CHAPLE syndrome
Reference material by Wiktionary contributors. This retains its source identity and is not 411 news reporting.
English
CD55 deficiency
Etymology
CHAPLE stands for "CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and severe protein-losing enteropathy".
Noun
- CHAPLE syndrome
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.