Detalhe da pesquisa
1.
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
J Clin Immunol
; 44(3): 61, 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363452
2.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
J Allergy Clin Immunol
; 152(3): 736-747, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277074
3.
Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children.
J Clin Immunol
; 43(6): 1278-1288, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37074537
4.
Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation.
J Autoimmun
; 132: 102891, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113303
5.
Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.
Blood
; 131(21): 2335-2344, 2018 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29653965
6.
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
J Allergy Clin Immunol
; 143(1): 359-368, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30273710
7.
Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.
J Clin Immunol
; 39(2): 225-227, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905051
8.
Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.
J Clin Immunol
; 39(1): 45-54, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30547383
9.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
J Allergy Clin Immunol
; 141(1): 322-328.e10, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28392333
10.
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
J Allergy Clin Immunol
; 139(4): 1302-1310.e4, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27658761
11.
De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature.
J Paediatr Child Health
; 57(8): 1305-1307, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33185949
12.
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.
Haematologica
; 100(7): 978-88, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26022711
13.
Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.
Pediatr Res
; 78(6): 603-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334989
14.
Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells.
Sci Immunol
; 9(91): eadj5948, 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38215192
15.
Autoantibodies against type I IFNs in patients with critical influenza pneumonia.
J Exp Med
; 219(11)2022 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112363
16.
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
Front Immunol
; 12: 671755, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34447369
17.
A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8⺠and natural killer cell cytotoxicity.
J Allergy Clin Immunol
; 134(1): 218-21, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24636087
18.
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.
Front Immunol
; 11: 455, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32256498
19.
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Enferm Infecc Microbiol Clin (Engl Ed)
; 38(9): 438-443, 2020 Nov.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-33161954
20.
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
J Allergy Clin Immunol Pract
; 8(10): 3342-3347, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33161963