Figure 1.

(A) Chromatograms corresponding to the Sanger sequencing of the LRBA nonsense mutation region in L283 and five healthy relatives. (B) Western blot analysis of LRBA and GAPDH for L283 patient (P) and a healthy control C+. LRBA protein is not detectable in the LRBA-deficient patient. (C) CTLA4 expression is downregulated in LRBA- and CTLA4-deficient patients. CTLA4 expression was assessed in Treg cells (CD3+CD4+CD25hiFoxP3+ cells) in resting and in PHA-stimulated cells (24 h). Bars represent mean values and error bars represent SE of the mean values for adult healthy controls (n = 5).