Detalhe da pesquisa
1.
Proteasome disorders and inborn errors of immunity.
Immunol Rev
; 322(1): 283-299, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38071420
2.
Deep immunophenotyping reveals biomarkers of multisystemic inflammatory syndrome in children in a Latin American cohort.
J Allergy Clin Immunol
; 150(5): 1074-1085.e11, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116582
3.
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
4.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
Ann Rheum Dis
; 81(5): 601-613, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35086813
5.
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.
J Allergy Clin Immunol
; 147(2): 520-531, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980424
6.
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
7.
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Blood
; 132(1): 89-100, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29632024
8.
Deep immune profiling uncovers novel associations with clinical phenotypes of multisystem inflammatory syndrome in children (MIS-C).
Ann Rheum Dis
; 82(3): 442-445, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36424123
9.
HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease.
Blood
; 138(19): 1896-1901, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34019630
10.
New autoinflammatory diseases.
Curr Opin Pediatr
; 30(6): 837-847, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30320618
11.
Refractory systemic juvenile idiopathic arthritis successfully treated with rapamycin.
Rheumatology (Oxford)
; 60(7): e250-e251, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547778
12.
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Eur J Hum Genet
; 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177409
13.
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
JCI Insight
; 7(21)2022 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36345943
14.
Protein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24.
Sci Immunol
; 7(68): eabi6763, 2022 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148201
15.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
Arthritis Rheumatol
; 74(5): 735-751, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35315249
16.
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.
Front Pediatr
; 9: 673957, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34095032
17.
Multisystem inflammatory syndrome in children and adults (MIS-C/A): Case definition & guidelines for data collection, analysis, and presentation of immunization safety data.
Vaccine
; 39(22): 3037-3049, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33640145
18.
First Report of Tocilizumab Use in a Cohort of Latin American Patients Hospitalized for Severe COVID-19 Pneumonia.
Front Med (Lausanne)
; 7: 596916, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33304913
19.
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Science
; 369(6500): 202-207, 2020 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32647003
20.
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Front Pediatr
; 6: 426, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30719430