Article
Immunodeficiency in Bloom's Syndrome.
Journal of clinical immunology - 1 Jan 2018
Schoenaker Michiel H D, Henriet Stefanie S, Zonderland Jip, van Deuren Marcel, Pan-Hammarström Qiang, Posthumus-van Sluijs Sandra J, Pico-Knijnenburg Ingrid, Weemaes Corry M R, IJspeert Hanna
Abstract excerpt
Bloom's syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B cells. Since BLM is involved in DNA repair, we aimed to study if BLM deficiency affects T and B cell development and especially somatic hypermutation (SHM) and...
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