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

British Journal of Haematology

Volumn 119, Issue 3, 2002, Pages 765-768

  Cossu, Fausto ^a   Vulliamy, Tom J ^b   Marrone, Anna ^b   Badiali, Manuela ^a   Cao, Antonio ^a   Dokal, Inderjeet ^b  

^a Osp Regionale per le Microcitemie   (Italy)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Bone marrow transplantation; Dyskeratosis congenita; Dyskerin; Hoyeraal Hreidarsson syndrome; Severe combined immunodeficiency

Indexed keywords

FLUDARABINE; MELPHALAN; THYMOCYTE ANTIBODY;

ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE SEVERITY; DONOR; DYSKERATOSIS CONGENITA; EXON; GENE MUTATION; HEMATOPOIESIS; HOYERAAL HREIDARSSON SYNDROME; HUMAN; IMMUNE DEFICIENCY; INFANT; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SIBLING;

BONE MARROW DISEASES; BONE MARROW TRANSPLANTATION; CELL CYCLE PROTEINS; DYSKERATOSIS CONGENITA; GRAFT SURVIVAL; HUMANS; INFANT; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY; SYNDROME; TRANSPLANTATION CONDITIONING;

EID: 0036435057     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03822.x     Document Type: Article

References (12)

1. Amrolia, P., Gaspar, H.B., Hassan, A., Webb, D., Jones, A., Sturt, N., Mieli-Vergani, G., Pagliuca, A., Mufti, G., Hadzic, N., Davies, G. & Veys, P. (2000) Nonmyeloablative stem cell transplantation for congenital immunodeficiencies. Blood, 96, 1239-1246.
2. Collins, K. (2000) Mammalian telomeres and telomerase. Current Opinion in Cell Biology, 12, 378-383.
3. Dokal, I. (2000) Dyskeratosis congenita in all its forms. British Journal of Haematology, 110, 768-779.
4. Heiss, N.S., Megarbane, A., Klauck, S.M., Kreuz, F.R., Makhoul, E., Majewski, F. & Poustka, A. (2001) One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). Genetic Counseling, 12, 129-136.
5. Herrera, E., Martinez, A.C. & Blasco, M.A. (2000) Impaired germinal center reaction in mice with short telomeres. EMBO Journal, 19, 472-481.
6. Knight, S.W., Heiss, N.S., Vulliamy, T.J., Aalfs, C.M., McMahon, C., Richmond, P., Jones, A., Hennekam, R.C., Poustka, A., Mason, P.J. & Dokal, I. (1999) Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. British Journal of Haematology, 107, 335-339.
7. Knight, S.W., Vulliamy, T.J., Morgan, B., Devriendt, K., Mason, P.J. & Dokal, I. (2001) Identification of novel DKC1 mutations in patients with dyskeratosis congenita: Implications for pathophysiology and diagnosis. Human Genetics, 108, 299-303.
8. Revy, P., Busslinger, M., Tashiro, K., Arenzana, F., Pillet, P., Fisher, A. & Durandy, A. (2000) A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia. Pediatrics, 105, e39.
9. Rudolph, K.L., Chang, S., Lee, H.-W., Blasco, M., Gottlieb, G.J., Greider, C. & DePinho, R.A. (1999) Longevity, stress response, and cancer in aging telomerase-deficient mice. Cell, 96, 701-712.
10. Vulliamy, T.J., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P.J. & Dokal, I. (2001a) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature, 413, 432-435.
11. Vulliamy, T.J., Knight, S.W., Mason, P.J. & Dokal, I. (2001b) Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells, Molecules, and Disease, 27, 353-357.
12. Yaghmai, R., Kimyai-Asadi, A., Rostamiani, K., Heiss, N.S., Poustka, A., Eyaid, W., Bodurtha, J., Nousari, H.C., Hamosh, A. & Metzenberg, A. (2000) Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. Journal of Pediatrics, 136, 390-393.