Detalhe da pesquisa
1.
DNA sensing via the cGAS/STING pathway activates the immunoproteasome and adaptive T-cell immunity.
EMBO J
; 42(8): e110597, 2023 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36912165
2.
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
J Clin Immunol
; 44(1): 1, 2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38100037
3.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Proc Natl Acad Sci U S A
; 116(3): 970-975, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591564
4.
Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.
J Clin Immunol
; 41(7): 1536-1548, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34080085
5.
Flow cytometric measurement of STAT5 phosphorylation in cytomegalovirus-stimulated T cells.
Cytometry A
; 99(8): 774-783, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280233
6.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Blood
; 134(18): 1510-1516, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501153
7.
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.
J Clin Immunol
; 40(3): 421-434, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965418
8.
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
J Clin Immunol
; 44(1): 41, 2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225415
9.
IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective TReg cell engraftment.
Clin Immunol
; 191: 52-58, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29567430
10.
MiR-492 regulates metastatic properties of hepatoblastoma via CD44.
Liver Int
; 38(7): 1280-1291, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29314711
11.
Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
Klin Padiatr
; 229(3): 113-117, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561224
12.
Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.
Pediatr Allergy Immunol
; 27(2): 177-84, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26592211
13.
Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.
Gastroenterology
; 156(1): 275-278, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30267714
14.
Disrupted degradative sorting of TLR7 is associated with human lupus.
Sci Immunol
; 9(92): eadi9575, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38207015
15.
Subcellular localization of FOXP3 in human regulatory and nonregulatory T cells.
Eur J Immunol
; 42(6): 1627-38, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678915
16.
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
J Exp Med
; 220(2)2023 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515678
17.
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.
J Allergy Clin Immunol Pract
; 10(7): 1725-1736.e2, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35364342
18.
Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.
Sci Rep
; 12(1): 3906, 2022 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35273242
19.
The Neurokinin-1 Receptor Is a Target in Pediatric Rhabdoid Tumors.
Curr Oncol
; 29(1): 94-110, 2021 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35049682
20.
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Sci Immunol
; 6(60)2021 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145065