Detalhe da pesquisa
1.
Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria.
Cell
; 183(7): 1826-1847.e31, 2020 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296702
2.
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.
Nat Immunol
; 19(9): 973-985, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127434
3.
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Proc Natl Acad Sci U S A
; 120(46): e2314225120, 2023 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37931111
4.
Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years.
Am J Hum Genet
; 108(3): 517-524, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33667394
5.
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Am J Hum Genet
; 108(12): 2301-2318, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34762822
6.
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.
J Clin Immunol
; 44(3): 62, 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363432
7.
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.
PLoS Genet
; 17(3): e1009392, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33661925
8.
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.
Proc Natl Acad Sci U S A
; 118(3)2021 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408250
9.
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
Proc Natl Acad Sci U S A
; 118(15)2021 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876776
10.
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.
J Clin Immunol
; 43(2): 406-420, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308662
11.
Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022.
J Clin Immunol
; 43(8): 1858-1872, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480474
12.
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.
J Clin Immunol
; 43(4): 728-740, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36630059
13.
Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis.
J Clin Immunol
; 43(5): 921-932, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36821021
14.
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
J Clin Immunol
; 43(1): 123-135, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044171
15.
Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.
N Engl J Med
; 382(5): 437-445, 2020 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31995689
16.
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Nat Immunol
; 12(3): 213-21, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21278736
17.
Multibatch Cytometry Data Integration for Optimal Immunophenotyping.
J Immunol
; 206(1): 206-213, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33229441
18.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183371
19.
Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.
Proc Natl Acad Sci U S A
; 116(21): 10430-10434, 2019 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31068474
20.
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.
Proc Natl Acad Sci U S A
; 116(33): 16463-16472, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31346092