Detalhe da pesquisa
1.
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Cell
; 172(5): 952-965.e18, 2018 02 22.
Artigo
Inglês
| MEDLINE | ID: mdl-29474921
2.
Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity.
Nat Immunol
; 19(9): 986-1000, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30127432
3.
Epigenetic analysis of cell-free DNA by fragmentomic profiling.
Proc Natl Acad Sci U S A
; 119(44): e2209852119, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36288287
4.
Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers.
J Clin Immunol
; 44(2): 49, 2024 Jan 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38231350
5.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
J Clin Immunol
; 44(2): 60, 2024 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38324161
6.
Nuclease deficiencies alter plasma cell-free DNA methylation profiles.
Genome Res
; 31(11): 2008-2021, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34470801
7.
A Novel LC-MS/MS Method for Therapeutic Drug Monitoring of Baricitinib in Plasma of Pediatric Patients.
Ther Drug Monit
; 46(1): 67-72, 2024 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37752637
8.
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity.
J Allergy Clin Immunol
; 2023 Nov 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38040041
9.
Supramolecular Nucleic Acid-Based Organosilica Nanoparticles Responsive to Physical and Biological Inputs.
J Am Chem Soc
; 145(42): 22903-22912, 2023 10 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37844092
10.
Responsive Nucleic Acid-Based Organosilica Nanoparticles.
J Am Chem Soc
; 145(42): 22896-22902, 2023 10 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37734737
11.
Immune tolerance breakdown in inborn errors of immunity: Paving the way to novel therapeutic approaches.
Clin Immunol
; 251: 109302, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36967025
12.
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction.
Am J Hum Genet
; 107(5): 882-894, 2020 11 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33022220
13.
Spontaneous NLRP3 inflammasome-driven IL-1-ß secretion is induced in severe COVID-19 patients and responds to anakinra treatment.
J Allergy Clin Immunol
; 150(4): 796-805, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35835255
14.
An Update on Familial Mediterranean Fever.
Int J Mol Sci
; 24(11)2023 May 31.
Artigo
Inglês
| MEDLINE | ID: mdl-37298536
15.
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency.
J Clin Immunol
; 42(7): 1535-1544, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35767111
16.
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.
Eur J Immunol
; 51(1): 206-219, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32707604
17.
Jagged Ends on Multinucleosomal Cell-Free DNA Serve as a Biomarker for Nuclease Activity and Systemic Lupus Erythematosus.
Clin Chem
; 68(7): 917-926, 2022 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35587043
18.
Evidence for charge-based mimicry in anti dsDNA antibody generation.
J Autoimmun
; 132: 102900, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36087539
19.
A Report of 2 Cases of Kidney Involvement in ADA2 Deficiency: Different Disease Phenotypes and the Tissue Response to Type I Interferon.
Am J Kidney Dis
; 80(5): 677-682, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35817275
20.
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
Rheumatology (Oxford)
; 61(2): 696-704, 2022 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33909886