Detalhe da pesquisa
1.
Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity.
J Clin Immunol;
44(4): 102, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634985
2.
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Blood Adv;
8(7): 1667-1682, 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38286463
3.
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study.
J Clin Immunol;
43(4): 756-768, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36662455
4.
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
Sci Immunol;
8(79): eade7953, 2023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36662884
5.
Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review.
Front Genet;
13: 1035673, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36353116
6.
Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity.
Front Cell Infect Microbiol;
12: 987692, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36159645
7.
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review.
Orphanet J Rare Dis;
17(1): 292, 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35897075
8.
Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene.
Front Immunol;
13: 890073, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35799777
9.
Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.
J Clin Immunol;
42(7): 1564-1579, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796921
10.
Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.
Mol Genet Genomic Med;
10(6): e1934, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384376
11.
Increased expression of the TLR7/9 signaling pathways in chronic active EBV infection.
Front Pediatr;
10: 1091571, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36619523
12.
Efficacy of tocilizumab therapy in a patient with severe pancytopenia associated with a STAT3 gain-of-function mutation.
BMC Immunol;
22(1): 19, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33731004
13.
Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.
J Clin Immunol;
41(4): 834-836, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501617
14.
The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations.
Allergy Asthma Clin Immunol;
16: 65, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32944025
15.
DOCK2 couples with LEF-1 to regulate B cell metabolism and memory response.
Biochem Biophys Res Commun;
529(2): 296-302, 2020 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32703426
16.
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
Orphanet J Rare Dis;
15(1): 131, 2020 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32471509
17.
Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation.
Genes Dis;
7(1): 122-127, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181283
18.
Effective and safe treatment of a novel IL2RA deficiency with rapamycin.
J Allergy Clin Immunol Pract;
8(3): 1132-1135.e4, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31605764
19.
Low-Dose Pioglitazone does not Increase ROS Production in Chronic Granulomatous Disease Patients with Severe Infection.
J Clin Immunol;
40(1): 131-137, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31745699
20.
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
Nature;
577(7788): 109-114, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827280