Detalles de la búsqueda
1.
Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment.
Ital J Pediatr;
50(1): 103, 2024 May 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-38769568
2.
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.
Sci Transl Med;
16(745): eadi8214, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38691622
3.
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.
Nat Commun;
15(1): 3662, 2024 Apr 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38688902
4.
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Nat Med;
30(2): 488-497, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38355973
5.
Letermovir for Cytomegalovirus infection in pediatric patients undergoing allogenic hematopoietic stem cell transplantation: a real-life study by the Infectious Diseases Working Group of Italian Association of Pediatric Hematology-Oncology (AIEOP).
Bone Marrow Transplant;
59(4): 505-512, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38272999
6.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Genome Med;
16(1): 6, 2024 Jan 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38184654
7.
Impact of newborn screening for SCID on the management of congenital athymia.
J Allergy Clin Immunol;
153(1): 330-334, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37678573
8.
Pediatric cancer care management during the COVID-19 pandemic: a review of the literature and a single-centre real-life experience of an Italian pediatric oncology unit.
Expert Rev Anticancer Ther;
23(9): 927-942, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37712347
9.
Outcome of BCG Vaccination in ADA-SCID Patients: A 12-Patient Series.
Biomedicines;
11(7)2023 Jun 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37509449
10.
Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review.
Front Immunol;
14: 1187959, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37435083
11.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
J Allergy Clin Immunol;
152(4): 984-996.e10, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37390899
12.
Newborn screening for severe combined immunodeficiency: changing the landscape of post-transplantation survival.
Lancet;
402(10396): 84-85, 2023 07 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37352884
13.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Genome Med;
15(1): 22, 2023 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37020259
14.
Use of music therapy in pediatric oncology: an Italian AIEOP multicentric survey study in the era of COVID-19.
Eur J Pediatr;
182(2): 689-696, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-36446889
15.
Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation.
J Allergy Clin Immunol;
151(1): 233-246.e10, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36152823
16.
Neonatal alloimmune neutropenia: diagnosis and management of 31 Italian patients.
Blood Transfus;
21(3): 227-234, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35969137
17.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
medRxiv;
2022 Oct 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-36324795
18.
Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency.
Front Immunol;
13: 910021, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36248833
19.
Natural history of type 1 diabetes on an immunodysregulatory background with genetic alteration in B-cell activating factor receptor: A case report.
Front Immunol;
13: 952715, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36090979
20.
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.
J Clin Immunol;
42(8): 1742-1747, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35945378