Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Interferon
NRAS
RALD
Regenerative nodular hyperplasia
SLE
Journal
Clinical immunology (Orlando, Fla.)
ISSN: 1521-7035
Titre abrégé: Clin Immunol
Pays: United States
ID NLM: 100883537
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
04
06
2021
revised:
13
08
2021
accepted:
23
08
2021
pubmed:
30
8
2021
medline:
10
11
2021
entrez:
29
8
2021
Statut:
ppublish
Résumé
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare immune dysregulation syndrome caused by somatic gain-of-function mutations of either NRAS or KRAS gene in hematopoietic cells. We describe a 27-year-old patient presenting at 5 months of age with recurrent infections and generalized lymphadenopathy who developed a complex multi-organ autoimmune syndrome with hypogammaglobulinemia, partially controlled with oral steroids, hydroxichloroquine, mofetil mycophenolate and IVIG prophylaxis. Activation of type I interferon pathway was observed in peripheral blood. Since 18 years of age, the patient developed regenerative nodular hyperplasia of the liver evolving into hepatopulmonary syndrome. Whole exome sequencing analysis of the peripheral blood DNA showed the NRAS p.Gly13Asp mutation validated as somatic. Our report highlights the possibility of detecting somatic NRAS gene mutations in patients with inflammatory immune dysregulation and type I interferon activation.
Identifiants
pubmed: 34455097
pii: S1521-6616(21)00174-1
doi: 10.1016/j.clim.2021.108837
pii:
doi:
Substances chimiques
Interferon Type I
0
Membrane Proteins
0
GTP Phosphohydrolases
EC 3.6.1.-
NRAS protein, human
EC 3.6.1.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
108837Informations de copyright
Copyright © 2021 Elsevier Inc. All rights reserved.