Detalhe da pesquisa
1.
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses.
J Clin Immunol
; 43(1): 109-122, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044170
2.
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma.
J Clin Immunol
; 43(3): 625-635, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36474126
3.
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.
J Clin Immunol
; 44(1): 4, 2023 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112969
4.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Blood
; 134(18): 1510-1516, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501153
5.
Immune and TRG repertoire signature of the thymus in Down syndrome patients.
Pediatr Res
; 89(1): 102-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32231346
6.
A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.
J Clin Immunol
; 40(1): 211-222, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31838659
7.
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Blood
; 132(22): 2362-2374, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30254128
8.
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
J Allergy Clin Immunol
; 143(2): 726-735, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29772310
9.
Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.
J Clin Immunol
; 39(4): 401-413, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31037583
10.
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.
J Immunol
; 199(12): 4036-4045, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127144
11.
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.
Blood
; 128(6): 783-93, 2016 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27301863
12.
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
J Clin Immunol
; 36(4): 341-53, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27063650
13.
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
J Allergy Clin Immunol
; 136(1): 140-150.e7, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25917813
14.
Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.
J Clin Immunol
; 35(8): 754-60, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26515615
15.
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
J Clin Immunol
; 35(2): 119-24, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25516070
16.
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.
J Allergy Clin Immunol
; 134(6): 1375-1380, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24996264
17.
Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices.
J Allergy Clin Immunol
; 144(1): 333-336, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053347
18.
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
J Allergy Clin Immunol
; 133(4): 1099-108, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24290284
19.
RAG1 reversion mosaicism in a patient with Omenn syndrome.
J Clin Immunol
; 34(5): 551-4, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24817258
20.
Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.
J Allergy Clin Immunol
; 139(2): 690-692.e3, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27609655