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. Author manuscript; available in PMC: 2016 Jul 1.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2016 Jul;63(1):e15–e17. doi: 10.1097/MPG.0000000000000532

Figure 2. Identification of loss of function mutations in IL10RB.

Figure 2

(a) Functional analysis of IL-10R was performed by assessing STAT3 phosphorylation using flow cytometry. Peripheral blood mononuclear cells were obtained from the patient and her father who served as a healthy control and cultured without stimuli (unstim.) or with IL-10 20 ng/mL for 30 minutes. Stimulation with IL-6 20ng/mL served as an internal positive control, since it also induces STAT3 phosphorylation. Cells were then fixed, permeabilized and stained for pSTAT3 (phosphorylated STAT3). (b) Targeted sequencing of IL10RB revealed compound heterozygote mutations.