PMC6236904_01
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
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PMC6236904_01_13223_2018_306_Fig1_HTML.jpg
Fig1
He appeared fine, but he underwent genetic testing because his maternal cousin had XLP1, and he was found to have a c.207_208insC (p.Pro70ProfsX4) mutation in exon 3 of SH2D1A (Fig. 1a, upper panel), which was the same mutation as that carried by his cousin. Gene analysis revealed that his mother was a carrier, and his elder brother was healthy (Fig. 1a, middle and lower panels). c.207_208insC in T cells and CD56+ NK cells (Fig. 1b). Serum immunoglobulin levels were of 275 mg/dL, 19 mg/dL, and 61 mg/dL for