Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome

Hansen, 1999, The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome, Proc Natl Acad Sci U S A, 96, 14412, 10.1073/pnas.96.25.14412

Jeanpierre, 1993, An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome, Hum Mol Genet, 2, 731, 10.1093/hmg/2.6.731

Gennery, 2007, Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome, Pediatrics, 120, e1341, 10.1542/peds.2007-0640

Weemaes, 2013, Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects, Eur J Hum Genet, 21, 1219, 10.1038/ejhg.2013.40

Pezzolo, 2001, T-cell apoptosis in ICF syndrome, J Allergy Clin Immunol, 108, 310, 10.1067/mai.2001.116863

Ehrlich, 2006, Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF), Orphanet J Rare Dis, 1, 2, 10.1186/1750-1172-1-2

Hagleitner, 2008, Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome), J Med Genet, 45, 93, 10.1136/jmg.2007.053397

Howard, 2006, The health status and quality of life of adults with X-linked agammaglobulinemia, Clin Immunol, 118, 201, 10.1016/j.clim.2005.11.002

Brown, 1995, ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome, Hum Genet, 96, 411, 10.1007/BF00191798

Sterlin, 2016, Genetic, cellular and clinical features of ICF syndrome: a French national survey, J Clin Immunol, 36, 149, 10.1007/s10875-016-0240-2

2017

Slatter, 2011, Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience, Blood, 117, 4367, 10.1182/blood-2010-10-312082

van Boogaard, 2017, Expanding the mutation spectrum in ICF syndrome: evidence for a gender bias in ICF2, Clin Genet, 10.1111/cge.12979

Yesilipek, 2014, Hematopoetic stem cell transplantation in children, Turk Pediatri Ars, 49, 91, 10.5152/tpa.2014.2010

Ljungman, 2010, Allogeneic and autologous transplantation for haematological diseases, solid tumours and immune disorders: current practice in Europe 2009, Bone Marrow Transplant, 45, 219, 10.1038/bmt.2009.141

Andreani, 2011, Quantitatively different red cell/nucleated cell chimerism in patients with long-term, persistent hematopoietic mixed chimerism after bone marrow transplantation for thalassemia major or sickle cell disease, Haematologica, 96, 128, 10.3324/haematol.2010.031013

Rechavi, 2016, A novel mutation in a critical region for the methyl donor binding in DNMT3B causes immunodeficiency, centromeric instability, and facial anomalies syndrome (ICF), J Clin Immunol, 36, 801, 10.1007/s10875-016-0340-z

Jin, 2008, DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function, Hum Mol Genet, 17, 690, 10.1093/hmg/ddm341

Simo-Riudalbas, 2015, Genome-wide DNA methylation analysis identifies novel hypomethylated non-pericentromeric genes with potential clinical implications in ICF syndrome, PLoS One, 10, e0132517, 10.1371/journal.pone.0132517