Hematopoietic Stem Cell Transplantation Corrects the Immunologic Abnormalities Associated With Immunodeficiency–Centromeric Instability–Facial Dysmorphism Syndrome
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Turleau C, Cabanis MO, Girault D, et al. Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. Am J Med Genet. 1989;32:420–424
Jeanpierre M, Turleau C, Aurias A, et al. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Mol Genet. 1993;2:731–735
Xu G, Bestor TH, Bourc'his D, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature. 1999;402:187–191
Jiang YL, Rigolet M, Bourc'his D, et al. DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat. 2005;25:56–63
Franceschini P, Martino S, Ciocchini M, et al. Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome: report of two new patients and review of the literature. Eur J Pediatr. 1995;154:840–846
Hansen RS, Weemaes C, Wijmenga C. Immunodeficiency with centromere instability and facial anomalies. In: Ochs HD, Smith CIE, Puck JM, eds. Primary Immune Deficiency Diseases: A Molecular and Genetic Approach. 2nd ed. Oxford, United Kingdom: Oxford University Press; 2007
Blanco-Betancourt CE, Moncla A, Milili M, et al. Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. Blood. 2004;103:2683–2690
Brown DC, Grace E, Sumner AT, Edmunds AT, Ellis PM. ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. Hum Genet. 1995;96:411–416
Reisli I, Yildirim MS, Koksal Y, Avunduk MC, Acar A. A case with ICF syndrome lost to rubella pneumonitis. Turk J Pediatr. 2005;47:85–88
Antoine C, Müller S, Cant A, et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99. Lancet. 2003;361:553–560
Gennery AR, Khawaja K, Veys P, et al. Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993–2002. Blood. 2004;103:1152–1157
Hansen RS, Wijmenga C, Luo P, et al. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A. 1999;96:14412–14417
Slatter MA, Gennery AR, Cheetham TD, et al. Thyroid dysfunction after bone marrow transplantation for primary immunodeficiency without the use of total body irradiation in conditioning. Bone Marrow Transplant. 2004;33:949–953
Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, et al. Long-term outcome following hematopoietic stem cell transplantation in Wiskott-Aldrich syndrome: a European society for immunodeficiencies and European group for blood and marrow transplantation collaborative study. Blood. In press.
Ehrlich M, Buchanan KL, Tsien F, et al. DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum Mol Genet. 2001;10:2917–2931