CHAPLE syndrome patients are generally diagnosed through a combination of clinical presentation, histology, and genetic testing. Although symptom presentation may vary, patients generally present with early-onset gastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, and hypogammaglobulinemia. Histopathological assessment of intestinal biopsy samples or resections revealed extensive lymphangiectasia, and suggest a diagnosis of primary intestinal lymphangiectasia. Patients are also susceptible to large-vein thrombosis.
CD55 deficiency
CD25 deficiency
MBL deficiency
Complement 2 deficiency
Complement 3 deficiency
Leukocyte adhesion molecule deficiency
Caspase-8 deficiency
CDKL5 deficiency disorder