A novel <i>DKC1</i> mutation, severe combined immunodeficiency (T⁺B^–NK^– SCID) and bone marrow transplantation in an infant with Hoyeraal–Hreidarsson syndrome

Abstract excerpt

X-linked Hoyeraal-Hreidarsson syndrome (XL-HHS) is the severe infantile variant of X-linked dyskeratosis congenita (XL-DC) and both are due to mutations in the DKC1 gene within Xq28. We report a novel missense mutation in DKC1 exon 3 (T113-->C, Ile38Thr) in a Sardinian infant with XL-HHS in whom the disease was characterized by 'T+B-NK-' severe combined immunodeficiency and bone marrow failure. He underwent...

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