Detalhe da pesquisa
1.
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.
Nat Immunol
; 21(8): 857-867, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32601469
2.
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
Nature
; 577(7788): 103-108, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827281
3.
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.
Ann Rheum Dis
; 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408849
4.
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features.
Ann Rheum Dis
; 80(6): 788-795, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619160
5.
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.
Blood
; 134(4): 395-406, 2019 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015188
6.
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
J Clin Immunol
; 40(6): 917-926, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32638197
7.
Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome.
Ann Rheum Dis
; 77(12): 1825-1833, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30131320
8.
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.
Ann Rheum Dis
; 77(5): 728-735, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29317407
9.
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Ann Rheum Dis
; 77(4): 612-619, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358286
10.
Early-onset stroke and vasculopathy associated with mutations in ADA2.
N Engl J Med
; 370(10): 911-20, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552284
11.
Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa.
J Am Acad Dermatol
; 75(2): 449-53, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27444081
12.
The systemic autoinflammatory diseases: Coming of age with the human genome.
J Allergy Clin Immunol
; 146(5): 997-1001, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32987090
13.
Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes.
Arthritis Rheum
; 64(7): 2375-86, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294344
14.
Case report: Novel variants in RELA associated with familial Behcet's-like disease.
Front Immunol
; 14: 1127085, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36926348
15.
Multiomics integration of 22 immune-mediated monogenic diseases reveals an emergent axis of human immune health.
Res Sq
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993430
16.
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
N Engl J Med
; 360(23): 2426-37, 2009 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19494218
17.
Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
Arthritis Rheumatol
; 74(2): 353-357, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492165
18.
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.
Front Immunol
; 12: 811473, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35095905
19.
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
J Clin Invest
; 128(7): 3041-3052, 2018 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29649002
20.
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Nat Genet
; 48(1): 67-73, 2016 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26642243