Detalhe da pesquisa
1.
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
N Engl J Med
; 385(21): 1929-1940, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788506
2.
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Lancet
; 399(10322): 372-383, 2022 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065785
3.
Emapalumab treatment in an ADA-SCID patient with refractory hemophagocytic lymphohistiocytosis-related graft failure and disseminated bacillus Calmette-Guérin infection.
Haematologica
; 106(2): 641-646, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817285
4.
In Ataxia-Telangiectasia, Oral Betamethasone Administration Ameliorates Lymphocytes Functionality through Modulation of the IL-7/IL-7Rα Axis Paralleling the Neurological Behavior: A Comparative Report of Two Cases.
Immunol Invest
; 50(2-3): 295-303, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32397775
5.
Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children.
Eur J Pediatr
; 178(1): 51-60, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269248
6.
Biweekly Hizentra® in Primary Immunodeficiency: a Multicenter, Observational Cohort Study (IBIS).
J Clin Immunol
; 38(5): 602-609, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29951948
7.
Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey.
Am J Med Genet A
; 176(10): 2128-2134, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30207636
8.
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.
J Clin Immunol
; 37(8): 751-758, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28932937
9.
DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.
Am J Med Genet A
; 173(7): 1913-1918, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28436605
10.
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.
Clin Immunol
; 161(2): 131-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307434
11.
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
BMC Med Genet
; 15: 1, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24383682
12.
Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome.
Scand J Gastroenterol
; 49(3): 274-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24344832
13.
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.
Sci Transl Med
; 16(745): eadi8214, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691622
14.
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Nat Med
; 30(2): 488-497, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355973
15.
Outcome of BCG Vaccination in ADA-SCID Patients: A 12-Patient Series.
Biomedicines
; 11(7)2023 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37509449
16.
Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review.
Front Immunol
; 14: 1187959, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37435083
17.
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.
J Allergy Clin Immunol
; 137(5): 1591-1595.e4, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26632527
18.
Wiskott-Aldrich syndrome: Oral findings and microbiota in children and review of the literature.
Clin Exp Dent Res
; 8(1): 28-36, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35199474
19.
Peripheral blood stem and progenitor cell collection in pediatric candidates for ex vivo gene therapy: a 10-year series.
Mol Ther Methods Clin Dev
; 22: 76-83, 2021 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485596
20.
Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels.
J Clin Med
; 9(3)2020 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32192142