Article
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.
The Journal of pediatrics - 1 Aug 2020
Fadlallah Jehane, Chentout Loic, Boisson Bertrand, Pouliet Aurore, Masson Cecile, Morin Florence, Durandy Anne, Casanova Jean-Laurent, Oksenhendler Eric, Kracker Sven
Abstract excerpt
The genetic investigation of a family presenting with a dominant form of hyper IgM syndrome published in 1963 and 1975 revealed a R190X nonsense mutation in activation-induced cytidine deaminase. This report illustrates the progress made over 6 decades in the characterization of primary immunodeficiencies, from immunochemistry to whole-exome sequencing.
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