Detalhe da pesquisa
1.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 583(7814): 90-95, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499645
2.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 584(7819): E2, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678341
3.
Targeting NF-κB signaling in B cells as a potential new treatment modality for ANCA-associated vasculitis.
J Autoimmun
; 142: 103133, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37931331
4.
High-throughput compound screen reveals mTOR inhibitors as potential therapeutics to reduce (auto)antibody production by human plasma cells.
Eur J Immunol
; 50(1): 73-85, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31621069
5.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
6.
Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.
Clin Immunol
; 203: 23-27, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30953794
7.
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
J Allergy Clin Immunol
; 142(4): 1285-1296, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477724
8.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
J Allergy Clin Immunol
; 143(6): 2296-2299, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30771411
9.
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation.
Front Pediatr
; 5: 37, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28289675
10.
The TNF Receptor Superfamily-NF-κB Axis Is Critical to Maintain Effector Regulatory T Cells in Lymphoid and Non-lymphoid Tissues.
Cell Rep
; 20(12): 2906-2920, 2017 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889989