Detalhe da pesquisa
1.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol
; 25(5): 764-777, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609546
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
; 83(6): 787-798, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408849
4.
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.
Proc Natl Acad Sci U S A
; 117(25): 14405-14411, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518111
5.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis
; 81(10): 1453-1464, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868845
6.
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
7.
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
Proc Natl Acad Sci U S A
; 113(36): 10127-32, 2016 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27559085
8.
Treatment Strategies for Deficiency of Adenosine Deaminase 2.
N Engl J Med
; 380(16): 1582-1584, 2019 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30995379
9.
Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20.
Ann Rheum Dis
; 79(3): 429-431, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31767699
10.
TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case Series.
Neurol Neuroimmunol Neuroinflamm
; 10(3)2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36941081
11.
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
12.
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