CHAPLE is characterized by severe protein-losing enteropathy leading to hypoproteinemia. Symptoms can include abdominal pain, nausea, vomiting, diarrhea, loss of appetite, weight loss, and edema. People also have chronic malabsorption, which causes deficiencies in iron, ferritin, calcium, magnesium, folate, vitamin D and vitamin B12. Some patients may have recurrent respiratory infections associated with hypogammaglobulinemia. Severe thrombotic vascular occlusions may also be found among these patients.
CD55 deficiency
CD25 deficiency
MBL deficiency
Complement 2 deficiency
Complement 3 deficiency
Leukocyte adhesion molecule deficiency
Caspase-8 deficiency
CDKL5 deficiency disorder