From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.
Journal
The Journal of pediatrics
ISSN: 1097-6833
Titre abrégé: J Pediatr
Pays: United States
ID NLM: 0375410
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
26
11
2019
revised:
17
02
2020
accepted:
12
03
2020
pubmed:
20
5
2020
medline:
2
12
2020
entrez:
20
5
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32423680
pii: S0022-3476(20)30353-X
doi: 10.1016/j.jpeds.2020.03.024
pii:
doi:
Substances chimiques
Cytidine Deaminase
EC 3.5.4.5
Types de publication
Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
207-211.e1Subventions
Organisme : NIAID NIH HHS
ID : P01 AI061093
Pays : United States
Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.