Detalhe da pesquisa
1.
The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.
Nat Immunol
; 18(7): 744-752, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28553952
2.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
J Allergy Clin Immunol
; 151(4): 1081-1095, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228738
3.
Multiplexed Functional Assessment of Genetic Variants in CARD11.
Am J Hum Genet
; 107(6): 1029-1043, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33202260
4.
The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis.
J Immunol
; 207(11): 2710-2719, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740959
5.
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
J Allergy Clin Immunol
; 149(1): 327-339, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864888
6.
MHC class II-dependent basophil-CD4+ T cell interactions promote T(H)2 cytokine-dependent immunity.
Nat Immunol
; 10(7): 697-705, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19465906
7.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Am J Med Genet A
; 185(1): 213-218, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044030
8.
Behçet disease (BD) and BD-like clinical phenotypes: NF-κB pathway in mucosal ulcerating diseases.
Scand J Immunol
; 92(5): e12973, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32889730
9.
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
J Allergy Clin Immunol
; 143(2): 726-735, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29772310
10.
STAT6 joins the gain-of-function club.
J Allergy Clin Immunol
; 152(1): 53-55, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37192684
11.
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings.
J Clin Immunol
; 43(8): 1747-1750, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481508
12.
Migratory and lymphoid-resident dendritic cells cooperate to efficiently prime naive CD4 T cells.
Immunity
; 29(5): 795-806, 2008 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-18951047
13.
Autoimmunity and Primary Immunodeficiency Disorders.
J Clin Immunol
; 36 Suppl 1: 57-67, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27210535
14.
Cutting edge: Conditional MHC class II expression reveals a limited role for B cell antigen presentation in primary and secondary CD4 T cell responses.
J Immunol
; 191(2): 545-50, 2013 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23772037
15.
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.
J Allergy Clin Immunol
; 142(5): 1665-1669, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30092289
16.
The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
bioRxiv
; 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328221
17.
The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Front Immunol
; 15: 1349601, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38487540
18.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
J Exp Med
; 221(8)2024 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38780621
19.
Absence of functional fetal regulatory T cells in humans causes in utero organ-specific autoimmunity.
J Allergy Clin Immunol
; 140(2): 616-619.e7, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28322850
20.
Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome.
Blood Adv
; 7(23): 7202-7208, 2023 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37792884