Detalhe da pesquisa
1.
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.
J Clin Immunol
; 44(1): 2, 2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38099988
2.
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.
J Clin Immunol
; 42(1): 119-129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657245
3.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Blood
; 136(23): 2638-2655, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32603431
4.
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
J Clin Immunol
; 40(2): 299-309, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865525
5.
Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP.
Immunol Cell Biol
; 97(4): 389-402, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30779216
6.
Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.
J Allergy Clin Immunol
; 139(3): 933-949, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27554822
7.
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.
J Clin Immunol
; 40(4): 567-570, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31953712
8.
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
J Clin Invest
; 131(3)2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33290277
9.
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.
JCI Insight
; 52019 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021819
10.
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Sci Immunol
; 3(24)2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907691
11.
Saccharomyces cerevisiae genes involved in survival of heat shock.
G3 (Bethesda)
; 3(12): 2321-33, 2013 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-24142923
12.
Distinct redox regulation in sub-cellular compartments in response to various stress conditions in Saccharomyces cerevisiae.
PLoS One
; 8(6): e65240, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23762325
13.
Superoxide radicals have a protective role during H2O2 stress.
Mol Biol Cell
; 24(18): 2876-84, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23864711