Abstract
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.
Original language | English |
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Pages (from-to) | 1411-1416 |
Number of pages | 6 |
Journal | Journal of Clinical Immunology |
Volume | 41 |
Issue number | 6 |
Early online date | 6 May 2021 |
DOIs | |
Publication status | Published - Aug 2021 |
Bibliographical note
Funding Information:We would like to thank Dr. Fiona Moghaddas for her help in the preparation of this manuscript.
Keywords
- CTLA4 haploinsufficiency
- neurological symptoms
- lymphoproliferation
- autoimmunity
- demyelination
- immune tolerance