Detalhe da pesquisa
1.
Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4+ T-cells for the treatment of Hyper IgM1.
EMBO J
; 42(23): e114188, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916874
2.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579284
3.
Altered CXCR4 dynamics at the cell membrane impairs directed cell migration in WHIM syndrome patients.
Proc Natl Acad Sci U S A
; 119(21): e2119483119, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35588454
4.
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
J Allergy Clin Immunol
; 153(1): 275-286.e18, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935260
5.
The lack of either IRF9, or STAT2, has surprisingly little effect on human natural killer cell development and function.
Immunology
; 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514903
6.
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
7.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Clin Chem
; 70(5): 737-746, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531023
8.
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.
J Allergy Clin Immunol
; 151(5): 1391-1401.e7, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36621650
9.
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
10.
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
11.
A MultiCenter, OpenLabel, SingleArm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency.
J Clin Immunol
; 42(3): 500-511, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34973143
12.
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
J Clin Immunol
; 42(8): 1748-1765, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947323
13.
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
14.
Impact of cytomegalovirus infection prior to hematopoietic stem cell transplantation in children with inborn errors of immunity.
Eur J Pediatr
; 181(11): 3889-3898, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36102997
15.
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.
J Allergy Clin Immunol
; 147(2): 520-531, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980424
16.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494577
17.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
J Allergy Clin Immunol
; 146(4): 901-911, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32278790
18.
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
19.
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
20.
Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.
Clin Immunol
; 201: 30-34, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776520