The 253‐kb inversion and deep intronic mutations in <i>UNC13D</i> are present in North American patients with familial hemophagocytic lymphohistiocytosis 3

Abstract excerpt

BACKGROUND: The mutations in UNC13D are responsible for familial hemophagocytic lymphohistiocytosis (FHL) type 3. A 253-kb inversion and two deep intronic mutations, c.118-308C > T and c.118-307G > A, in UNC13D were recently reported in European and Asian FHL3 patients. We sought to determine the prevalence of these three non-coding mutations in North American FHL patients and evaluate the significance of...

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