Detalhe da pesquisa
1.
SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA.
Mol Cell
; 82(19): 3712-3728.e10, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150385
2.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741518
3.
Novel mutation and expanding phenotype in IRF2BP2 deficiency.
Rheumatology (Oxford)
; 62(4): 1699-1705, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36193988
4.
Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation.
J Clin Immunol
; 41(7): 1664-1667, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34131834
5.
Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?
Rheumatology (Oxford)
; 60(4): e136-e138, 2021 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200187
6.
A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report.
Pediatr Rheumatol Online J
; 22(1): 9, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38178067
7.
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
Front Immunol
; 13: 1029423, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36275728
8.
PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Brain Dev
; 43(2): 320-324, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158637
9.
Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation.
TH Open
; 4(4): e413-e416, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33376940
10.
Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.
Eur J Paediatr Neurol
; 22(1): 186-189, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29221912
11.
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.
Neurol Genet
; 6(1): e384, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042913
12.
SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility.
J Invest Dermatol
; 138(6): 1428-1431, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29409814