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Fig. 2 | BMC Pediatrics

Fig. 2

From: The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency

Fig. 2

Electropherogram and functional test of XIAP mutation. a The Figure shows electopherograms of the mutation (c.1021_1022delAA) in exon 4 of XIAP in genomic DNA of patient, mother (heterozygous) and control (wild type). b Scheme of the protein structure of XIAP: BIR 1, 2, 3 and RING domains are shown. Black arrow indicates the localization of the mutation found in our patient. The mutation results in the substitution of the wild-type amino acids NIHLTHSLE with the mutant amino acids YSFNSFT until the stop codon and in the truncation of the protein at 347 amino acid of the 497 wild type protein. c Detection of the XIAP protein by flow cytometry on patient, his mother and in two healthy donors (male age related with patient and female controls age related with mother). The intracellular staining was performed with two different anti-human XIAP antibodies that recognize the N-terminal domain (amino acids 1-202) or the C-terminal domain (amino acid 268–426), respectively in the left and in the right side. The XIAP expression was evaluated on the CD45+ CD3+ cell gate. Grey area in the dashed line represents staining with secondary antibody alone. d NOD signalling pathway assay was performed testing patient, mother and age matched controls PBMCs unstimulated (US) or treated with IL-1β and MDP. The integrity of the pathway was measured using an IL-8 ELISA. PBMCs from our Crohn’s like patient were unable to induce the production of IL-8 after MDP stimulation, compared with wild-type controls and his mother, who carries in heterozygous the same mutation. The histograms report the mean of the values obtained by two different experiments.

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