Detalhe da pesquisa
1.
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Nat Immunol
; 23(8): 1256-1272, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902638
2.
NGS better discriminates true MRD positivity for the risk stratification of childhood ALL treated on an MRD-based protocol.
Blood
; 141(5): 529-533, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240445
3.
Molecular Screening in Anaplastic Lymphoma Kinase-Positive Anaplastic Large Cell Lymphoma: Anaplastic Lymphoma Kinase Analysis, Next-Generation Sequencing Fusion Gene Detection, and T-Cell Receptor Immunoprofiling.
Mod Pathol
; 37(3): 100428, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38266918
4.
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.
Mol Biol Rep
; 51(1): 399, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456993
5.
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Br J Haematol
; 203(4): 678-683, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646304
6.
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
J Allergy Clin Immunol
; 149(4): 1464-1472.e3, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34536415
7.
Therapeutic options for CTLA-4 insufficiency.
J Allergy Clin Immunol
; 149(2): 736-746, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111452
8.
Complex genetic and histopathological study of 15 patient-derived xenografts of aggressive lymphomas.
Lab Invest
; 102(9): 957-965, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488033
9.
TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.
Am J Hematol
; 97(3): 338-351, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981838
10.
Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.
J Clin Immunol
; 40(1): 165-178, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31760574
11.
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.
J Clin Immunol
; 38(5): 589-601, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29934865
12.
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Blood
; 135(26): 2427-2431, 2020 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276275
13.
Biologic and clinical features of childhood gamma delta T-ALL: identification of STAG2/LMO2 γδ T-ALL as an extremely high risk leukemia in the very young.
medRxiv
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37986997
14.
Quality Control for IG /TR Marker Identification and MRD Analysis.
Methods Mol Biol
; 2453: 91-99, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35622322
15.
Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease.
Cell Death Dis
; 11(6): 430, 2020 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514016
16.
Concurrent TP53 and CDKN2A Gene Aberrations in Newly Diagnosed Mantle Cell Lymphoma Correlate with Chemoresistance and Call for Innovative Upfront Therapy.
Cancers (Basel)
; 12(8)2020 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32751805
17.
Preclinical Evaluation of a Novel SHIP1 Phosphatase Activator for Inhibition of PI3K Signaling in Malignant B Cells.
Clin Cancer Res
; 26(7): 1700-1711, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31831562
18.
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
Front Immunol
; 11: 371, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32265901
19.
Heterologous Cytomegalovirus and Allo-Reactivity by Shared T Cell Receptor Repertoire in Kidney Transplantation.
Front Immunol
; 10: 2549, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31736968
20.
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
J Pediatr Endocrinol Metab
; 32(10): 1147-1153, 2019 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31483759