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.
CARD11 regulates the thymic Treg development in an NF-κB-independent manner.
Front Immunol;
15: 1364957, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38650932
3.
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
4.
The TRIM37 variants in Mulibrey nanism patients paralyze follicular helper T cell differentiation.
Cell Discov;
9(1): 82, 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528081
5.
Nomogram for Predicting Early Mortality after Umbilical Cord Blood Transplantation in Children with Inborn Errors of Immunity.
J Clin Immunol;
43(6): 1379-1392, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37155023
6.
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
7.
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
8.
The gestational age significantly affects peripheral perfusion index value in low-altitude areas.
Acta Paediatr;
112(5): 951-953, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695200
9.
Peripheral perfusion index in well newborns at 6 to 72 h of life at different altitudes: a multi-center study in China.
Eur J Pediatr;
182(2): 907-915, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36525095
10.
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
11.
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
12.
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
13.
Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease.
J Clin Immunol;
42(8): 1614-1617, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35900637
14.
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
15.
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
16.
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
17.
Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients.
Front Genet;
13: 768000, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35145548
18.
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
19.
RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production.
JCI Insight;
6(19)2021 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622798
20.
High-Frequency Exon Deletion of DNA Cross-Link Repair 1C Accounting for Severe Combined Immunodeficiency May Be Missed by Whole-Exome Sequencing.
Front Genet;
12: 677748, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34421990