Detalhe da pesquisa
1.
Homozygous IL37 mutation associated with infantile inflammatory bowel disease.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674380
2.
Novel mutations of TYK2 leading to divergent clinical phenotypes.
Pediatr Allergy Immunol
; 33(1): e13671, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34569645
3.
Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity.
Mycopathologia
; 187(5-6): 455-467, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180657
4.
An Update on XMEN Disease.
J Clin Immunol
; 40(5): 671-681, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451662
5.
Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3.
J Clin Immunol
; 40(5): 741-751, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514655
6.
Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome.
Clin Immunol
; 197: 60-67, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30138677
7.
Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in south China.
Pediatr Allergy Immunol
; 29(8): 863-872, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152884
8.
[Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(6): 844-847, 2018 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-30512160
9.
[Clinical features and mutational analysis of a case with Sensenbrenner syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(3): 426-428, 2018 Jun 10.
Artigo
em Zh
| MEDLINE | ID: mdl-29896747
10.
Acquired Hemophilia A in Wiskott-Aldrich Syndrome.
J Clin Immunol
; 41(5): 1119-1122, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33660143
11.
A New Patient with NOCARH Syndrome Due to CDC42 Defect.
J Clin Immunol
; 40(4): 571-575, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424669
12.
Canakinumab in the treatment of systemic juvenile idiopathic arthritis: a retrospective single center study in China.
Front Pediatr
; 12: 1349907, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38550627
13.
Tocilizumab-induced hypofibrinogenemia in patients with systemic-onset juvenile idiopathic arthritis.
Sci Rep
; 13(1): 9050, 2023 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270663
14.
JAK inhibitors in systemic juvenile idiopathic arthritis.
Front Pediatr
; 11: 1134312, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37152309
15.
Elevated serum IFN-γand IFN-γ/IL-6 ratio in Kikuchi-Fujimoto disease.
Pediatr Rheumatol Online J
; 21(1): 88, 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37608293
16.
Macrophage activation syndrome in children with Kikuchi-Fujimoto disease.
Pediatr Rheumatol Online J
; 21(1): 10, 2023 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36698152
17.
Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.
World J Pediatr
; 18(7): 490-497, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35551623
18.
Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect.
Pediatr Rheumatol Online J
; 19(1): 9, 2021 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33482855
19.
Kawasaki disease associated pulmonary involvement in infants.
Pediatr Pulmonol
; 56(10): 3389-3394, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34339594
20.
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
J Clin Invest
; 130(1): 507-522, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31714901