TY  - JOUR
AU  - Hou, Tie Zheng
AU  - Verma, Nisha
AU  - Wanders, Jennifer
AU  - Kennedy, Alan
AU  - Soskic, Blagoje
AU  - Janman, Daniel
AU  - Halliday, Neil
AU  - Rowshanravan, Behzad
AU  - Worth, Austen
AU  - Qasim, Waseem
AU  - Baxendale, Helen
AU  - Stauss, Hans
AU  - Seneviratne, Suranjith
AU  - Neth, Olaf
AU  - Olbrich, Peter
AU  - Hambleton, Sophie
AU  - Arkwright, Peter D
AU  - Burns, Siobhan O
AU  - Walker, Lucy S K
AU  - Sansom, David M
PY  - 2017
DO  - 10.1182/blood-2016-10-745174
UR  - http://hdl.handle.net/10668/10837
T2  - Blood
AB  - Heterozygous CTLA-4 deficiency has been reported as a monogenic cause of common variable immune deficiency with features of immune dysregulation. Direct mutation in CTLA-4 leads to defective regulatory T-cell (Treg) function associated with impaired...
LA  - en
PB  - American Society of Hematology
KW  - CTLA-4 Antigen
KW  - Immunotherapy
KW  - Immunobiology
KW  - Mutation
KW  - Lysosomes
KW  - Adaptor Proteins, Signal Transducing
KW  - CTLA-4 Antigen
KW  - Cell Line
KW  - Common Variable Immunodeficiency
KW  - Forkhead Transcription Factors
KW  - Humans
KW  - Immune System Phenomena
KW  - Ligands
KW  - Mutation
KW  - T-Lymphocytes, Regulatory
TI  - Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.
TY  - research article
VL  - 129
ER  -