Family C (XLP) pedigree and genetic investigations. (A) ▪ indicates male members of the family who died of XLP-associated disease; ▦, surviving XLP patients; and □ or ○, unaffected members. Female members 2 and 11 are obligate heterozygous for the XLP deficiency. (B) PBMCs obtained from a healthy control and from patient 9 were stimulated with phytohemagglutinin (PHA, 1 μg/mL) for the indicated times. After stimulation, whole-cell lysates were evaluated by Western blotting using anti-SH2D1A antibody. In normal cells, SH2D1A protein levels increase gradually after stimulation. SH2D1A protein levels are decreased at baseline in patient 9 and fail to increase in response to PHA stimulation. (bottom panel) Dot-plot analysis of patient 9 and control (N) samples shown as an example.