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.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
; 388(24): 2241-2252, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256972
3.
Systematic Analysis of Cell-to-Cell Expression Variation of T Lymphocytes in a Human Cohort Identifies Aging and Genetic Associations.
Immunity
; 45(5): 1162-1175, 2016 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27851916
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.
HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.
Proc Natl Acad Sci U S A
; 117(1): 552-562, 2020 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31871193
6.
Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles.
Ann Rheum Dis
; 81(3): 406-415, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34789453
7.
Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever.
Clin Exp Rheumatol
; 37 Suppl 121(6): 89-92, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31376265
8.
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
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.
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.
Proc Natl Acad Sci U S A
; 112(52): 15970-5, 2015 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26598658
11.
Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.
Ann Rheum Dis
; 76(5): 906-913, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27927641
12.
Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity.
Proc Natl Acad Sci U S A
; 111(24): 8867-72, 2014 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24821759
13.
A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers.
Ann Rheum Dis
; 75(12): 2208-2211, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27217550
14.
Hypophosphatasia and the risk of atypical femur fractures: a case-control study.
BMC Musculoskelet Disord
; 17: 332, 2016 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27507156
15.
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.
Proc Natl Acad Sci U S A
; 110(20): 8134-9, 2013 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633568
16.
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
17.
Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.
Curr Opin Rheumatol
; 27(4): 349-56, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26002026
18.
Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.
J Clin Immunol
; 35(3): 249-53, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25708585
19.
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
N Engl J Med
; 366(4): 330-8, 2012 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22236196
20.
The immunogenetics of Behçet's disease: A comprehensive review.
J Autoimmun
; 64: 137-48, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26347074