Condition: Immunodeficiency syndrome, variable


rs121908941 in DNMT3B gene and Immunodeficiency syndrome, variable PMID 16543361 2006 Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.

PMID 11102980 2000 Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

PMID 17893117 2008 Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

PMID 23486536 2013 Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 10588719 1999 The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

PMID 11741835 2001 DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.