Detalhe da pesquisa
1.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
2.
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.
J Clin Immunol
; 43(6): 1403-1413, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37156989
3.
Systemic inflammatory syndrome in children with FARSA deficiency.
Clin Genet
; 101(5-6): 552-558, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132614
4.
Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy.
Clin Gastroenterol Hepatol
; 21(5): 1368-1371.e2, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35944833
5.
Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.
J Pediatr Gastroenterol Nutr
; 64(3): 378-384, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27253662
6.
Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation.
Gastroenterology
; 159(5): 1968-1971.e4, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721438
7.
CD24-triggered caspase-dependent apoptosis via mitochondrial membrane depolarization and reactive oxygen species production of human neutrophils is impaired in sepsis.
J Immunol
; 192(5): 2449-59, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24501201
8.
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.
Gastroenterology
; 156(4): 1206-1210.e1, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30557559
9.
Interferon-γ and granulocyte/monocyte colony-stimulating factor production by natural killer cells involves different signaling pathways and the adaptor stimulator of interferon genes (STING).
J Biol Chem
; 288(15): 10715-21, 2013 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23443666
10.
NK cell tolerance to TLR agonists mediated by regulatory T cells after polymicrobial sepsis.
J Immunol
; 188(12): 5850-8, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22566566
11.
NOD-like receptors in intestinal homeostasis and epithelial tissue repair.
Int J Mol Sci
; 15(6): 9594-627, 2014 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886810
12.
Assessment of efficacy of antifungals against Aspergillus fumigatus: value of real-time bioluminescence imaging.
Antimicrob Agents Chemother
; 57(7): 3046-59, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23587947
13.
First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.
Gastroenterology
; 153(2): 609-611.e3, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28683258
14.
Toll-like receptors expression and interferon-γ production by NK cells in human sepsis.
Crit Care
; 16(5): R206, 2012 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23098236
15.
Dysregulation of the immune response in TGF-ß signalopathies.
Front Immunol
; 13: 1066375, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36569843
16.
Structural characterization of a pathogenic mutant of human protein tyrosine phosphatase PTPN2 (Cys216Gly) that causes very early onset autoimmune enteropathy.
Protein Sci
; 31(2): 538-544, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34806245
17.
Clustering ICU patients with sepsis based on the patterns of their circulating biomarkers: A secondary analysis of the CAPTAIN prospective multicenter cohort study.
PLoS One
; 17(10): e0267517, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36301921
18.
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
J Clin Invest
; 132(10)2022 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575086
19.
Mechanisms of TNF induction by heat-killed Staphylococcus aureus differ upon the origin of mononuclear phagocytes.
Am J Physiol Cell Physiol
; 300(4): C850-9, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21209364
20.
Bacteriophage therapy of Salmonella enterica: a fresh appraisal of bacteriophage therapy.
J Infect Dis
; 201(1): 52-61, 2010 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19929381