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Received 12 August 2010; Accepted 23 November 2010; Published online 17 December 2010.Supplemental digital Nike Air Max submissions are intended for this article.Nike Air Max 90 The top of pageAbstractPurpose: We report a male child who presented at 15 months with perianal abscesses and proctitis, progressing to transmural pancolitis with colocutaneous fistulae, in step with a Crohn disease like illness. Goedkoop Nike Air Max 1 Dames The age and severity of the presentation suggested an actual immune defect; however, despite comprehensive clinical evaluation, we had been not able to come to a definitive diagnosis, thereby restricting clinical management.Methods: We sought to recognize the causative mutation(s) through exome sequencing to supply the essential further information important for clinical management.Results: After sequencing, we identified 16,124 variants. Subsequent analysis identified a singular, hemizygous missense mutation in the X linked inhibitor of apoptosis gene, substituting a tyrosine to get a highly conserved and functionally important cysteine.

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