Detalhe da pesquisa
1.
X-linked chronic granulomatous disease secondary to skewed X-chromosome inactivation in female patients.
Clin Exp Immunol
; 215(3): 261-267, 2024 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38066563
2.
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).
J Clin Immunol
; 43(4): 780-793, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729249
3.
Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.
BMC Musculoskelet Disord
; 24(1): 247, 2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37003989
4.
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.
J Clin Immunol
; 42(6): 1280-1292, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35596857
5.
A novel missense mutation in TNFAIP3 causes haploinsufficiency of A20.
Cell Immunol
; 371: 104453, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34808442
6.
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease.
J Allergy Clin Immunol
; 142(2): 595-604.e16, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29155103
7.
Xanthomatous erosive arthritis: A new disease entity?
Pediatr Blood Cancer
; 70(3): e30018, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317415
8.
The hidden dangers of short-term glucocorticoid use in children: A genomic analysis.
Int Immunopharmacol
; 135: 112323, 2024 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38788448
9.
Mannose-binding lectin contributes to deleterious inflammatory response in pandemic H1N1 and avian H9N2 infection.
J Infect Dis
; 205(1): 44-53, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22080095
10.
Inborn errors of immunity in mainland China: the past, present and future.
BMJ Paediatr Open
; 7(1)2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37474202
11.
Panniculitis with late onset enthesitis-related arthritis: a case report.
Pediatr Rheumatol Online J
; 21(1): 97, 2023 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37697374
12.
Clinical heterogeneity of NLRP12-associated autoinflammatory diseases.
Genes Dis
; 10(3): 1090-1100, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37396539
13.
Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.
World J Pediatr
; 19(7): 687-700, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154862
14.
The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China.
Front Immunol
; 14: 1267933, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37809096
15.
FAAH served a key membrane-anchoring and stabilizing role for NLRP3 protein independently of the endocannabinoid system.
Cell Death Differ
; 30(1): 168-183, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104448
16.
Type 1 responses of human Vγ9Vδ2 T cells to influenza A viruses.
J Virol
; 85(19): 10109-16, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21752902
17.
H5N1 influenza virus-induced mediators upregulate RIG-I in uninfected cells by paracrine effects contributing to amplified cytokine cascades.
J Infect Dis
; 204(12): 1866-78, 2011 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22013225
18.
A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.
Genes Dis
; 9(1): 176-186, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005117
19.
Case Report: Immune reconstitution inflammatory syndrome after hematopoietic stem cell transplantation for severe combined immunodeficiency.
Front Immunol
; 13: 960749, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225916
20.
A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.
Front Immunol
; 13: 866638, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35677041