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.
Time-resolved systems immunology reveals a late juncture linked to fatal COVID-19.
Cell
; 184(7): 1836-1857.e22, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33713619
3.
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Cell
; 172(5): 952-965.e18, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474921
4.
Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity.
Nat Immunol
; 19(9): 986-1000, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127432
5.
Treatment of Relapsing HPV Diseases by Restored Function of Natural Killer Cells.
N Engl J Med
; 385(10): 921-929, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469647
6.
Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals.
J Allergy Clin Immunol
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154666
7.
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.
J Clin Immunol
; 43(2): 512-520, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36378426
8.
Temporal Dynamics of Anti-Type 1 Interferon Autoantibodies in Patients With Coronavirus Disease 2019.
Clin Infect Dis
; 75(1): e1192-e1194, 2022 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34875033
9.
Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity.
J Allergy Clin Immunol
; 148(5): 1192-1197, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492260
10.
Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System.
J Clin Immunol
; 41(5): 852-862, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33650026
11.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome.
J Allergy Clin Immunol
; 146(5): 1165-1179.e11, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32311393
12.
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Blood
; 132(22): 2362-2374, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30254128
13.
Architecture of the human PI4KIIIα lipid kinase complex.
Proc Natl Acad Sci U S A
; 114(52): 13720-13725, 2017 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29229838
14.
Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.
Blood
; 140(14): 1650-1655, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35839449
15.
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.
J Allergy Clin Immunol
; 142(3): 928-941.e8, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29241731
16.
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
N Engl J Med
; 372(25): 2409-22, 2015 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26083206
17.
Deep immune profiling uncovers novel associations with clinical phenotypes of multisystem inflammatory syndrome in children (MIS-C).
Ann Rheum Dis
; 82(3): 442-445, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36424123
18.
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.
Proc Natl Acad Sci U S A
; 111(24): 8889-94, 2014 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889605
19.
Novel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling.
J Clin Immunol
; 41(2): 470-472, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184721
20.
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
J Clin Immunol
; 36(4): 341-53, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27063650