Detalhe da pesquisa
1.
Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.
Immunol Rev
; 322(1): 81-97, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084635
2.
Generation of complex bone marrow organoids from human induced pluripotent stem cells.
Nat Methods
; 21(5): 868-881, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374263
3.
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Blood
; 141(6): 645-658, 2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223592
4.
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
J Clin Immunol
; 44(1): 18, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129603
5.
Mammalian VPS45 orchestrates trafficking through the endosomal system.
Blood
; 137(14): 1932-1944, 2021 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512427
6.
Age-specific incidence of joint disease in paediatric patients with haemophilia: A single-centre real-world outcome based on consecutive US examination.
Haemophilia
; 29(5): 1359-1365, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639381
7.
Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ.
J Allergy Clin Immunol
; 149(1): 252-261.e6, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176646
8.
Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19.
J Clin Immunol
; 42(7): 1360-1370, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764767
9.
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
J Clin Immunol
; 41(5): 975-986, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558980
10.
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
J Clin Immunol
; 41(1): 125-135, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33083971
11.
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.
Int Immunol
; 32(10): 663-671, 2020 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32603428
12.
Genetic Deficiency and Biochemical Inhibition of ITK Affect Human Th17, Treg, and Innate Lymphoid Cells.
J Clin Immunol
; 39(4): 391-400, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31025232
13.
Wnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells.
Proc Natl Acad Sci U S A
; 110(8): 3023-8, 2013 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23382209
14.
Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency.
Pediatr Int
; 55(4): e96-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23910817
15.
Analyzing mitochondrial respiration of human induced pluripotent stem cell-derived myeloid progenitors using Seahorse technology.
STAR Protoc
; 4(1): 102073, 2023 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36853722
16.
Structural basis of spike RBM-specific human antibodies counteracting broad SARS-CoV-2 variants.
Commun Biol
; 6(1): 395, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041231
17.
A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis.
PNAS Nexus
; 2(4): pgad104, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37077884
18.
Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.
Res Sq
; 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577484
19.
Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity.
J Exp Med
; 220(9)2023 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37273177
20.
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
J Allergy Clin Immunol
; 137(2): 619-622.e1, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26242301