CD55 deficiency

CD55 deficiency
Other namesCHAPLE Syndrome, DAF deficiency
CHAPLE Syndrome has an autosomal recessive pattern of inheritance
SpecialtyMedical genetics
SymptomsGastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, hypogammaglobulinemia, intestinal lymphangiectasia
CausesGenetic (autosomal recessive)
Diagnostic methodGenetic testing
TreatmentEculizumab

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)."[1] The disorder usually manifests in childhood and can be life-threatening. This condition was described by Özen, et al. in 2017.[1]

  1. ^ a b Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, et al. (July 2017). "CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis". The New England Journal of Medicine. 377 (1): 52–61. doi:10.1056/NEJMoa1615887. PMC 6690356. PMID 28657829.
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