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.
Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency.
Blood Adv;
8(3): 603-607, 2024 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883797
3.
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
4.
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
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.
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
8.
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
9.
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
10.
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
11.
Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review.
Growth Horm IGF Res;
60-61: 101423, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375817
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.
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
14.
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
15.
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
16.
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
17.
Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.
J Clin Immunol;
39(6): 600-610, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367980
18.
Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.
J Clin Immunol;
39(3): 309-315, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30919141
19.
Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia.
J Clin Immunol;
39(2): 188-194, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30810840
20.
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
J Diabetes;
10(1): 50-58, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371426