CTLA4 haploinsufficiency is a rare autosomal dominant immune dysregulation disorder first described in 2014 [1, 2]. Patients with this disorder exhibit reduced expression of CTLA4, an inhibitory receptor that is found on activated and regulatory T lymphocytes, with subsequent T cell hyperactivation and lymphoproliferation. Here we report three members of the same family with a novel CTLA4 haploinsufficiency and neurological complications.
Bibliographical noteFunding Information:
We would like to thank Dr. Fiona Moghaddas for her help in the preparation of this manuscript.
- CTLA4 haploinsufficiency
- neurological symptoms
- immune tolerance