TY  - JOUR
AU  - Turnbull, Cynthia
AU  - Bones, Josiah
AU  - Stanley, Maurice
AU  - Medhavy, Arti
AU  - Wang, Hao
AU  - Lorenzo, Ayla May D
AU  - Cappello, Jean
AU  - Shanmuganandam, Somasundhari
AU  - Pandey, Abhimanu
AU  - Seneviratne, Sandali
AU  - Brown, Grant J
AU  - Meng, Xiangpeng
AU  - Fulcher, David
AU  - Burgio, Gaetan
AU  - Man, Si Ming
AU  - de Lucas Collantes, Carmen
AU  - Gasior, Mercedes
AU  - López Granados, Eduardo
AU  - Martin, Pilar
AU  - Jiang, Simon H
AU  - Cook, Matthew C
AU  - Ellyard, Julia I
AU  - Athanasopoulos, Vicki
AU  - Corry, Ben
AU  - Canete, Pablo F
AU  - Vinuesa, Carola G
PY  - 2023
DO  - 10.1126/sciadv.adi9566
UR  - http://hdl.handle.net/20.500.12105/16859
AB  - Autosomal dominant loss-of-function (LoF) variants in cytotoxic T-lymphocyte associated protein 4 (CTLA4) cause immune dysregulation with autoimmunity, immunodeficiency and lymphoproliferation (IDAIL). Incomplete penetrance and variable expressivity...
LA  - eng
PB  - American Association for the Advancement of Science (AAAS)
KW  - Haploinsufficiency
KW  - Lectins, C-Type
KW  - Animals
KW  - Humans
KW  - Mice
KW  - Autoimmunity
KW  - CTLA-4 Antigen
TI  - DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.
TY  - journal article
ER  -