TY  - JOUR
AU  - Hou, Tie Zheng
AU  - Olbrich, Peter
AU  - Soto, Jose Manuel Lucena
AU  - Sanchez, Berta
AU  - Moreno, Paula Sanchez
AU  - Borte, Stephan
AU  - Stauss, Hans J
AU  - Burns, Siobhan O
AU  - Walker, Lucy S K
AU  - Pan-Hammarström, Qiang
AU  - Hammarström, Lennart
AU  - Sansom, David M
AU  - Neth, Olaf
PY  - 2018
DO  - 10.1016/j.clim.2018.01.001
UR  - http://hdl.handle.net/10668/11974
T2  - Clinical immunology (Orlando, Fla.)
AB  - The CTLA-4 checkpoint regulates the activation of T cells. Individuals with heterozygous mutations in CTLA-4 have a complex phenotype typically characterized by antibody deficiency alongside variable autoimmunity. Despite severe disease in some...
LA  - en
KW  - Autoimmunity
KW  - CD28
KW  - CTLA-4
KW  - Immunodeficiency
KW  - Mutation
KW  - Regulatory T cells
KW  - CD28 Antigens
KW  - CTLA-4 Antigen
KW  - Diarrhea
KW  - Family Health
KW  - Female
KW  - Humans
KW  - Intestinal Diseases
KW  - Lymphocyte Activation
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Severity of Illness Index
KW  - Signal Transduction
KW  - T-Lymphocytes
KW  - T-Lymphocytes, Regulatory
TI  - Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity.
TY  - research article
VL  - 188
ER  -