Article
Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.
Journal of medical genetics - 1 Apr 2012
Casey Jillian P, Nobbs Michael, McGettigan Paul, Lynch Sallyann, Ennis Sean
Abstract excerpt
BACKGROUND: A study is presented of 10 children with a novel syndrome born to consanguineous parents from the Irish Traveller population. The syndrome is characterised by a natural killer (NK) cell deficiency, evidence of an atypical Fanconi's type DNA breakage disorder, and features of familial glucocorticoid deficiency (FGD). The NK cell deficiency probably accounts for the patients' recurrent viral illnesses....
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