From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.
Fadlallah J,Chentout L,Boisson B,Pouliet A,Masson C,Morin F,Durandy A,Casanova J,Oksenhendler E,Kracker S
Source :
J. Pediatr.
2020 Mai 15
Pmid / DOI:
32423680
Abstract
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.Copyright © 2020 Elsevier Inc. All rights reserved.