CD55 deficiency
| CD55 deficiency | |
|---|---|
| Other names | CHAPLE Syndrome, DAF deficiency |
| CHAPLE Syndrome has an autosomal recessive pattern of inheritance | |
| Specialty | Medical genetics |
| Symptoms | Gastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, hypogammaglobulinemia, intestinal lymphangiectasia |
| Causes | Genetic (autosomal recessive) |
| Diagnostic method | Genetic testing |
| Treatment | Eculizumab |
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.