Detalhe da pesquisa
1.
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
Cell
; 184(17): 4447-4463.e20, 2021 08 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34363755
2.
TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).
J Allergy Clin Immunol
; 149(5): 1812-1816.e6, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34780847
3.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
; 185(5): 1366-1378, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33522091
4.
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
J Clin Immunol
; 40(6): 917-926, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32638197
5.
[Genetic diagnostics of autoinflammatory diseases]. / Genetische Diagnostik autoinflammatorischer Erkrankungen.
Z Rheumatol
; 79(7): 611-623, 2020 Sep.
Artigo
Alemão
| MEDLINE | ID: mdl-32761370
6.
Current and future advances in genetic testing in systemic autoinflammatory diseases.
Rheumatology (Oxford)
; 58(Suppl 6): vi44-vi55, 2019 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31769854
7.
Enhancer decommissioning by Snail1-induced competitive displacement of TCF7L2 and down-regulation of transcriptional activators results in EPHB2 silencing.
Biochim Biophys Acta
; 1859(11): 1353-1367, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27504909
8.
Deficiency of adenosine deaminase 2: Is it an elephant after all?
J Allergy Clin Immunol
; 145(6): 1560-1561, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32353490
9.
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.
J Allergy Clin Immunol
; 142(4): 1363-1365.e8, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29936104
10.
Case report: Novel variants in RELA associated with familial Behcet's-like disease.
Front Immunol
; 14: 1127085, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36926348
11.
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Nat Rev Rheumatol
; 17(7): 405-425, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34035534
12.
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.
Pediatr Rheumatol Online J
; 19(1): 54, 2021 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-33892719
13.
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Arthritis Rheumatol
; 73(10): 1886-1895, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33779074
14.
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.
Front Immunol
; 12: 811473, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-35095905
15.
Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.
Arthritis Rheumatol
; 73(3): 512-519, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33021335
16.
Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation.
J Leukoc Biol
; 108(2): 573-589, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32678922
17.
The Pyrin Inflammasome in Health and Disease.
Front Immunol
; 10: 1745, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31456795
18.
Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency.
J Rheumatol
; 46(8): 1059-1060, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31092714