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
em Inglês
| MEDLINE | ID: mdl-33974366
2.
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
J Clin Immunol
; 43(7): 1566-1580, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37273120
3.
Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency.
Blood
; 138(15): 1304-1316, 2021 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974038
4.
Severe combined immunodeficiency: improved survival leading to detection of underlying liver disease.
BMC Gastroenterol
; 23(1): 166, 2023 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37208598
5.
[Adenosine deaminase 2 deficiency: a disease with multiple presentations]. / Déficit en adénosine désaminase 2 : une maladie aux présentations multiples.
Rev Med Suisse
; 18(776): 669-673, 2022 Apr 06.
Artigo
em Francês
| MEDLINE | ID: mdl-35385618
6.
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
J Clin Immunol
; 41(7): 1633-1647, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324127
7.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Clin Genet
; 99(6): 780-788, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586135
8.
[Newborn screening for severe T and B lymphocyte deficiencies in Switzerland]. / Pédiatrie - Dépistage des nouveau-nés en Suisse pour les déficiences sévères à lymphocytes T et B.
Rev Med Suisse
; 17(720-1): 68-76, 2021 Jan 13.
Artigo
em Francês
| MEDLINE | ID: mdl-33443835
9.
[Pediatric COVID-19 - Pathophysiology, immune responses, genetic predispositions, hyperinflammatory syndrome]. / COVID-19 pédiatrique - Pathophysiologie, réponses immunitaires, prédispositions génétiques et syndrome hyperinflammatoire.
Rev Med Suisse
; 17(726): 334-337, 2021 Feb 17.
Artigo
em Francês
| MEDLINE | ID: mdl-33599408
10.
Busulfan Pharmacokinetics in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Gene Therapy.
Biol Blood Marrow Transplant
; 26(10): 1819-1827, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32653625
11.
Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.
J Clin Immunol
; 40(8): 1124-1131, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32880085
12.
Intra-uterine growth restriction induced by maternal low-protein diet causes long-term alterations of thymic structure and function in adult male rat offspring.
Br J Nutr
; 123(8): 892-900, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959270
13.
Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome.
J Clin Immunol
; 39(5): 476-485, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144250
14.
Cytoreductive conditioning intensity predicts clonal diversity in ADA-SCID retroviral gene therapy patients.
Blood
; 129(19): 2624-2635, 2017 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28351939
15.
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Am J Hum Genet
; 96(6): 913-25, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26046366
16.
Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome.
J Clin Immunol
; 38(1): 13-27, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29086100
17.
Correction to: New DominantNegative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130Dependent HyperIgE Syndrome.
J Clin Immunol
; 43(7): 1674, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341861
18.
N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome.
Blood
; 127(2): 216-20, 2016 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26468226
19.
"Inborn errors of immunity: An expanding horizon through a multitude of biological pathways".
Pediatr Allergy Immunol
; 34(1): e13908, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36705036
20.
Pediatric Allergy and Immunology (PAI) is for polishing with artificial intelligence, but careful use.
Pediatr Allergy Immunol
; 34(9): e14023, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37747752