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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

Fig. 1

Target cell (K562-EGFP) apoptosis indicating NK cell killing activity examined using flow cytometry (Annexin V-APC, propidium iodide-PC5.5): a Natural apoptosis background of target cell. b Target cell apoptosis of the patient. c Target cell apoptosis of her mother. d Target cell apoptosis of her father. CD107a expression level indicating NK cell degranulation examined using flow cytometry (CD107a-FITC, CD3-PerCP): Resting e and activated (i) CD107a level of control group. Resting (f) and activated (j) CD107a level of the patient. Resting (g) and activated (k) CD107a level of her mother. Resting (h) and activated (l) CD107a level of her father. Heterozygous mutations of STXBP2 (c.592A > C, p.Thr198Pro) (m) and LYST (c.830A > T, p.His277Leu) (n) detected in DNA sequence of the patient’s mother by Sanger sequencing

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BMC Medical Genetics

ISSN: 1471-2350

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