Cure Alveolar Soft Part Sarcoma International (iCureASPS)

CTLA4 deficiency is a rare disorder that severely impairs the normal regulation of the immune system, resulting in conditions such as intestinal disease; respiratory infections; autoimmune problems; and enlarged lymph nodes, liver, and spleen. NIAID scientists and their collaborators identified the disease in 2014. NIAID supports research to learn more about the genetic cause of CTLA4 deficiency and investigates potential therapies for the symptoms and related conditions associated with it.

https://www.niaid.nih.gov/diseases-cond ... deficiency

“CTLA4 deficiency is diagnosed based on clinical symptoms, laboratory findings, and genetic testing.”