Detalhe da pesquisa
1.
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
Nat Immunol
; 18(7): 813-823, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28530713
2.
CVID enteropathy is characterized by exceeding low mucosal IgA levels and interferon-driven inflammation possibly related to the presence of a pathobiont.
Clin Immunol
; 197: 139-153, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30240602
3.
Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.
Front Immunol
; 13: 988862, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189261
4.
Bruton tyrosine kinase deficiency augments NLRP3 inflammasome activation and causes IL-1ß-mediated colitis.
J Clin Invest
; 130(4): 1793-1807, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31895698
5.
Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.
J Clin Invest
; 128(5): 1793-1806, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29408806