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The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease.

Clinical immunology (Orlando, Fla.) - 1 Oct 2003

Ehrlich Melanie

Abstract excerpt

Only one human disease that involves Mendelian inheritance of immunodeficiency and aberrant DNA methylation has been identified. This is a rare chromosome breakage disease called the immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF). Its diagnostic characteristics are agammaglobulinemia with B cells as well as DNA rearrangements targeted to the centromere-adjacent...

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PMID: 14585272
DOI: 10.1016/s1521-6616(03)00201-8

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