Detalhe da pesquisa
1.
Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.
N Engl J Med
; 384(21): 2002-2013, 2021 05 27.
Artigo
Inglês
| MEDLINE | ID: mdl-33974366
2.
Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.
Blood
; 140(7): 685-705, 2022 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35671392
3.
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
J Allergy Clin Immunol
; 152(3): 771-782, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37150360
4.
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
J Clin Immunol
; 43(8): 2062-2075, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37726596
5.
Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency.
Blood
; 138(15): 1304-1316, 2021 10 14.
Artigo
Inglês
| MEDLINE | ID: mdl-33974038
6.
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.
J Allergy Clin Immunol
; 149(1): 379-387, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34004258
7.
Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.
Immunol Rev
; 287(1): 62-72, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30565235
8.
Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency.
Ann Allergy Asthma Immunol
; 129(6): 776-783.e2, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35914665
9.
Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.
Neuropediatrics
; 53(6): 432-435, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35817355
10.
Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy.
J Clin Immunol
; 41(7): 1597-1606, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34184208
11.
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.
J Clin Immunol
; 41(8): 1915-1935, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34657246
12.
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
J Clin Immunol
; 41(7): 1633-1647, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34324127
13.
Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.
Clin Immunol
; 211: 108321, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31812707
14.
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
J Clin Immunol
; 40(6): 833-839, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32514656
15.
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
J Clin Immunol
; 40(6): 917-926, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32638197
16.
Adenosine deaminase 2 as a biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis.
Ann Rheum Dis
; 79(2): 225-231, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31707357
17.
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
J Allergy Clin Immunol
; 143(3): 852-863, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30194989
18.
Gout, Hyperuricaemia and Crystal-Associated Disease Network (G-CAN) consensus statement regarding labels and definitions of disease states of gout.
Ann Rheum Dis
; 78(11): 1592-1600, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31501138
19.
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
Blood
; 130(24): 2682-2688, 2017 12 14.
Artigo
Inglês
| MEDLINE | ID: mdl-28974505
20.
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
J Clin Immunol
; 38(4): 484-493, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29744787