Fig. 1

CTLA4 mutation in our patient’s family and decreased CTLA4 mRNA expression in his two daughters. a The family tree shows the same genetic mutation, heterozygous nonsense p. Q12X mutation in CTLA4, found in our patient (blue arrow) and his three children. His wife has wild type with no mutation. Their main clinical symptoms are described. b Real-time PCR using peripheral blood mononuclear cells (PBMCs), after stimulation with anti-CD3 and anti-CD28 obtained from his two daughters, showed decreased expression of the reactive CTLA4 mRNA compared to that in the control group