Detalhe da pesquisa
1.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503300
2.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
N Engl J Med
; 389(6): 527-539, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342957
3.
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
J Clin Immunol
; 44(2): 44, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231408
4.
Primary immunodeficiencies in cytosolic pattern-recognition receptor pathways: Toward host-directed treatment strategies.
Immunol Rev
; 297(1): 247-272, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32640080
5.
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.
BMC Genomics
; 24(1): 305, 2023 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37280537
6.
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.
J Clin Immunol
; 44(1): 10, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129331
7.
Effect of exogenous IL-37 on immune cells from a patient carrying a potential IL37 loss-of-function variant: A case study.
Cytokine
; 162: 156102, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36476991
8.
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
J Allergy Clin Immunol
; 149(1): 432-439.e4, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048852
9.
Presence of Genetic Variants Among Young Men With Severe COVID-19.
JAMA
; 324(7): 663-673, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706371
10.
[Chronic anemia and unexplained inflammation: think of VEXAS syndrome]. / Chronische anemie en onverklaarde ontsteking.
Ned Tijdschr Geneeskd
; 1672023 04 19.
Artigo
em Holandês
| MEDLINE | ID: mdl-37078566
11.
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
Biomolecules
; 13(1)2023 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36671517
12.
Dexamethasone attenuates interferon-related cytokine hyperresponsiveness in COVID-19 patients.
Front Immunol
; 14: 1233318, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37614228
13.
Transient anti-cytokine autoantibodies superimpose the hyperinflammatory response in Kawasaki disease and multisystem inflammatory syndrome in children: a comparative cohort study on correlates of disease.
EBioMedicine
; 95: 104736, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37524002
14.
TLR9 ligand sequestration by chemokine CXCL4 negatively affects central B cell tolerance.
J Exp Med
; 220(12)2023 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37773045
15.
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
J Exp Med
; 220(5)2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36884218
16.
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19.
Genome Med
; 14(1): 96, 2022 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986347
17.
Multi-Omics Integration Reveals Only Minor Long-Term Molecular and Functional Sequelae in Immune Cells of Individuals Recovered From COVID-19.
Front Immunol
; 13: 838132, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35464396
18.
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Elife
; 112022 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250618
19.
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19.
iScience
; 25(2): 103760, 2022 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35036860
20.
Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives.
Clin Rev Allergy Immunol
; 61(2): 212-225, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33666867