… events are commonly observed following CTLA-4 inhibition in melanoma treatment, and a
… occur as a consequence of somatic mutations in the interferon receptor signaling or antigen …

… Clinical studies on CTLA4 mutation carriers showed a … dysfunction is caused by
haploinsufficiency, impaired CTLA-4 … an autosomal dominant immune dysregulation syndrome …

… -old man with an immune dysregulation syndrome and a de novo CTLA4 germline mutation.
The … reported to cause an autosomal dominant immune dysregulation and immunodeficient …

… and immune dysregulation syndromes. Particularly, … in human autosomal dominant
disorders, CTLA-4 insufficiency has an incomplete clinical penetrance resulting in 30% of mutation …

… The clinical diagnosis of CTLA-4 insufficiency is complicated by a highly variable phenotype,
… an autosomal dominant immune dysregulation syndrome attributed to a CTLA-4 mutation. …

… Autosomal dominant loss of function mutations in CTLA4 result in a complex syndrome of
immune dysregulation and … of these molecules cause immune deficiency and dysregulation (4). …

… mutations in the CTLA4 gene were shown to cause … of autosomal dominant CTLA4
haploinsufficiency. Furthermore, … deficiency show CTLA4 loss and immune dysregulation …

… mutations in cytotoxic T lymphocyte–associated antigen-4 (CTLA4) cause an immune
dysregulation syndrome … outcomes of 123 symptomatic carriers of CTLA4 mutation. On an organ-…

… CTLA4 haploinsufficiency is an autosomal dominant PID characterized by … A diagnosis
of immune dysregulation syndrome with CTLA4 germline mutation was made. He was treated …

… Although immune dysregulation and autoimmunity are hallmarks of multiple … To evaluate
the causality of mutated DEF6 for aberrant regulation of CTLA-4 trafficking, we utilized several …