Figure S3.
Panel A shows western blot images comparing LRBA, CTLA-4, and actin protein expression in activated peripheral blood mononuclear cell samples from healthy controls, mother, and patient. Panel B shows representative flow cytometry histograms demonstrating intracellular LRBA expression in whole blood samples. The histograms compare expression levels among a healthy control (HC), a patient with known LRBA deficiency, and the patient. The x-axis represents LRBA expression levels, and the y-axis represents the percentage of events of maximum. The isotype control histogram shows a peak at a low LRBA expression level. The HC histogram shows a peak at a high LRBA expression level. The LRBA-deficient patient histogram shows a peak at a low LRBA expression level, closer to the isotype control. The homozygous CTLA-4 S172P patient's histogram shows a peak with high LRBA expression, similar to the HC.
Analysis of CTLA-4 and LRBA protein expression. (A) Western blot analysis of CTLA-4 and LRBA protein levels in PBMCs activated with anti-CD3/CD28 for 4 days. Protein extracts from HCs, the heterozygous mother, and the patient were evaluated. (B) Representative flow cytometry histograms demonstrating intracellular LRBA expression in whole blood samples. Expression levels are compared among an HC, a patient with known LRBA deficiency, and the patient. HC, healthy control. Source data are available for this figure: SourceData FS3.