1.
J Pediatr
; 223: 207-211.e1, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32423680
RESUMO
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.