Detalhe da pesquisa
1.
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
Immunity
; 53(3): 672-684.e11, 2020 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750333
2.
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.
Nat Immunol
; 17(12): 1352-1360, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27776107
3.
ß-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
J Immunol
; 212(6): 962-973, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38315012
4.
Comment on: Evidence of innate lymphoid cell redundancy in humans.
Nat Immunol
; 19(8): 788-789, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30026477
5.
Retraction Note: A homing system targets therapeutic T cells to brain cancer.
Nature
; 567(7746): 132, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30787441
6.
Validating inborn error of immunity prevalence and risk with nationally representative electronic health record data.
J Allergy Clin Immunol
; 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278184
7.
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.
J Allergy Clin Immunol
; 153(1): 216-229, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714437
8.
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
9.
Degranulation enhances presynaptic membrane packing, which protects NK cells from perforin-mediated autolysis.
PLoS Biol
; 19(8): e3001328, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34343168
10.
National Pediatrician-Scientist Collaborative Workgroup comment on new ACGME requirements' impact on pediatric physician-scientists.
Pediatr Res
; 95(1): 70-74, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37684431
11.
A homing system targets therapeutic T cells to brain cancer.
Nature
; 561(7723): 331-337, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30185905
12.
A validated artificial intelligence-based pipeline for population-wide primary immunodeficiency screening.
J Allergy Clin Immunol
; 151(1): 272-279, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243223
13.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
J Allergy Clin Immunol
; 149(2): 758-766, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329649
14.
Emerging insights into human health and NK cell biology from the study of NK cell deficiencies.
Immunol Rev
; 287(1): 202-225, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30565241
15.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773277
16.
A research-driven approach to the identification of novel natural killer cell deficiencies affecting cytotoxic function.
Blood
; 135(9): 629-637, 2020 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31945148
17.
Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
J Infect Dis
; 223(4): 645-654, 2021 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471124
18.
Class Switch Recombination Defects: impact on B cell maturation and antibody responses.
Clin Immunol
; 222: 108638, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33276124
19.
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Am J Hum Genet
; 103(2): 171-187, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032986
20.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805043