Detalhe da pesquisa
1.
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Cell
; 186(23): 5114-5134.e27, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37875108
2.
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Cell
; 186(3): 621-645.e33, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36736301
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.
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
5.
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
J Clin Immunol
; 41(3): 639-657, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417088
6.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Hum Mol Genet
; 27(22): 3919-3935, 2018 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222290
7.
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
8.
Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.
J Clin Immunol
; 38(7): 794-803, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30264381
9.
Deep immunophenotyping shows altered immune cell subsets in CTLA-4 haploinsufficiency.
Pediatr Allergy Immunol
; 34(7): e13994, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37492916
10.
The human gene damage index as a gene-level approach to prioritizing exome variants.
Proc Natl Acad Sci U S A
; 112(44): 13615-20, 2015 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26483451
11.
Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rß1 Deficiency.
J Clin Immunol
; 37(7): 732-738, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28865061
12.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Hum Mol Genet
; 28(3): 524, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30329057
13.
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Hum Mol Genet
; 22(4): 769-81, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161749
14.
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Blood
; 122(14): 2390-401, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23963039
15.
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
J Clin Immunol
; 34(8): 904-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135595
16.
Helper T cell immunity in humans with inherited CD4 deficiency.
J Exp Med
; 221(5)2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38557723
17.
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.
J Clin Immunol
; 38(4): 460-463, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29777412
18.
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Science
; 379(6632): eabo3627, 2023 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538032
19.
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
J Exp Med
; 219(7)2022 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670811
20.
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
J Exp Med
; 219(8)2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708626