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.
Inherited human ezrin deficiency impairs adaptive immunity.
J Allergy Clin Immunol;
152(4): 997-1009.e11, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37301410
4.
Clinical and cellular phenotypes resulting from a founder mutation in IL10RB.
Clin Exp Immunol;
2023 Jul 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37503744
5.
Mendelian susceptibility to mycobacterial disease: 2014-2018 update.
Immunol Cell Biol;
97(4): 360-367, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30264912
6.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol;
84(5): 766-780, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30295347
7.
Expanding the molecular and phenotypic spectrum of CTLA-4 insufficiency.
Pediatr Allergy Immunol;
35(2): e14077, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38351878
8.
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
9.
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
10.
Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rß1 deficiencies.
Pediatr Blood Cancer;
64(6)2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27873456
11.
Identification of the inflammasome Nlrp1b as the candidate gene conferring diabetes risk at the Idd4.1 locus in the nonobese diabetic mouse.
J Immunol;
194(12): 5663-73, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25964492
12.
γδ T cells are essential effectors of type 1 diabetes in the nonobese diabetic mouse model.
J Immunol;
190(11): 5392-401, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23626013
13.
Do not let them slip through the net: Catching a case of leaky severe combined immunodeficiency.
J Paediatr Child Health;
56(5): 809-811, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31721334
14.
The mutation significance cutoff: gene-level thresholds for variant predictions.
Nat Methods;
13(2): 109-10, 2016 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26820543
15.
Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.
Eur J Med Genet;
66(7): 104786, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37172778
16.
Functional Overlap of Inborn Errors of Immunity and Metabolism Genes Define T Cell Immunometabolic Vulnerabilities.
bioRxiv;
2023 Jan 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36747715
17.
Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells.
Cell Rep;
42(2): 112128, 2023 02 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36807140
18.
Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3.
Front Immunol;
12: 775140, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34868041
19.
Clinical and Immunological Features of Human BCL10 Deficiency.
Front Immunol;
12: 786572, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34868072
20.
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.
J Clin Invest;
131(17)2021 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34623332