Fig. 1
From: Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1
a Mutation analysis of XLP1 family. Direct sequencing analysis of the SH2D1A gene revealed c.207_208insC in the patient (upper panel). His mother showed a heterozygous mutation, indicating a carrier, whereas his elder brother showed a wild allele, indicating a normal (middle and lower panels). Arrows indicate the mutation site. b Flow cytometric analysis of SAP expression. Intracellular SAP expression in CD8+ T cells and CD56+ NK cells was reduced in the patient. Red line, isotype control; blue line, anti-SAP monoclonal antibody