Complement hyperactivation angiopathic thrombosis protein losing enteropathy

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (commonly referred to as CHAPLE syndrome or CD55 deficiency) is an ultra-rare, monogenic immune and gastrointestinal disorder inherited in an autosomal recessive pattern This complement dysregulation induces microvascular injury and intestinal lymphangiectasia, culminating in severe gastrointestinal protein loss, hypoalbuminemia, and peripheral edema Patients frequently experience chronic abdominal pain, malabsorp...

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (commonly referred to as CHAPLE syndrome or CD55 deficiency) is an ultra-rare, monogenic immune and gastrointestinal disorder inherited in an autosomal recessive pattern

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (commonly referred to as CHAPLE syndrome or CD55 deficiency) is an ultra-rare, monogenic immune and gastrointestinal disorder inherited in an autosomal recessive pattern The condition primarily manifests in infancy or early childhood and stems from loss-of-function mutations in the *CD55* gene (decay-accelerating factor), resulting in uncontrolled terminal complement cascade activation

The condition primarily manifests in infancy or early childhood and stems from loss-of-function mutations in the *CD55* gene (decay-accelerating factor), resulting in uncontrolled terminal complement cascade activation This complement dysregulation induces microvascular injury and intestinal lymphangiectasia, culminating in severe gastrointestinal protein loss, hypoalbuminemia, and peripheral edema Patients frequently experience chronic abdominal pain, malabsorption, malnutrition, recurrent infe...

This complement dysregulation induces microvascular injury and intestinal lymphangiectasia, culminating in severe gastrointestinal protein loss, hypoalbuminemia, and peripheral edema

Patients frequently experience chronic abdominal pain, malabsorption, malnutrition, recurrent infections due to hypogammaglobulinemia, and potentially life-threatening angiopathic thromboembolic occlusions