A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.

Abstract

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 sibling bone marrow transplantation using a conditioning regimen (fludarabine, rabbit antithymocyte globulin, low-dose melphalan) selected according to the HHS/DC phenotype. This was associated with low toxicity, prompt engraftment with adequate immune reconstitution and full donor haemopoiesis.

• Authors: Fausto Cossu, Tom J Vulliamy, Anna Marrone, Manuela Badiali, Antonio Cao, Inderjeet Dokal
• Journal: British journal of haematology (Br J Haematol) Vol. 119 Issue 3 Pg. 765-8 (Dec 2002) ISSN: 0007-1048 [Print] England
• PMID: 12437656 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cell Cycle Proteins
• DKC1 protein, human
• Nuclear Proteins

Topics

• Bone Marrow Diseases (genetics, therapy)
• Bone Marrow Transplantation (methods)
• Cell Cycle Proteins (genetics)
• Dyskeratosis Congenita (genetics)
• Graft Survival
• Humans
• Infant
• Male
• Mutation, Missense (genetics)
• Nuclear Proteins (genetics)
• Severe Combined Immunodeficiency (genetics, therapy)
• Syndrome
• Transplantation Conditioning (methods)