Detalhe da pesquisa
1.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
; 388(24): 2241-2252, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256972
2.
Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.
J Allergy Clin Immunol
; 143(1): 173-181.e10, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30248356
3.
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
J Allergy Clin Immunol
; 143(4): 1482-1495, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30170123
4.
Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.
J Clin Immunol
; 39(4): 401-413, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31037583
5.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Blood
; 125(4): 591-9, 2015 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25359994
6.
Novel INHAT repressor (NIR) is required for early lymphocyte development.
Proc Natl Acad Sci U S A
; 111(38): 13930-5, 2014 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25201955
7.
CYLD and the NEMO Zinc Finger Regulate Tumor Necrosis Factor Signaling and Early Embryogenesis.
J Biol Chem
; 290(36): 22076-84, 2015 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26224629
8.
Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.
Proc Natl Acad Sci U S A
; 110(13): 5127-32, 2013 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23493554
9.
Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.
Blood
; 129(5): 650-653, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27956386
10.
Aurora B interacts with NIR-p53, leading to p53 phosphorylation in its DNA-binding domain and subsequent functional suppression.
J Biol Chem
; 286(3): 2236-44, 2011 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20959462
11.
The deubiquitinase CYLD targets Smad7 protein to regulate transforming growth factor ß (TGF-ß) signaling and the development of regulatory T cells.
J Biol Chem
; 286(47): 40520-30, 2011 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-21931165
12.
CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome.
Clin Immunol
; 143(2): 152-61, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22459705
13.
Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.
Hum Mutat
; 32(3): 318-24, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309033
14.
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
J Exp Med
; 218(3)2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33231617
15.
Impaired regulation of NF-kappaB and increased susceptibility to colitis-associated tumorigenesis in CYLD-deficient mice.
J Clin Invest
; 116(11): 3042-9, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17053834
16.
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
J Exp Med
; 216(9): 1986-1998, 2019 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235509
17.
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.
Hum Mutat
; 29(6): 861-8, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18412279
18.
Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation.
J Clin Invest
; 114(11): 1593-602, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15578091
19.
PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients.
J Exp Med
; 214(9): 2523-2533, 2017 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28710273
20.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Nat Genet
; 49(8): 1192-1201, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28628108