We report on 2 Asian siblings with X-linked inhibitor of apoptosis deficiency that arose from a novel deletion that presented with Epstein-Barr virus disease and hemophagocytic lymphohistiocytosis. This disease is ascribed to dysfunction in the nucleotide binding and oligomerization domain receptor pathway, tested using a modified muramyl dipeptide-mediated assay.
Keywords: BIRC4 mutation; Epstein-Barr virus; NOD-2; X-linked inhibitor of apoptosis; X-linked lymphoproliferative syndrome.
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