Detalhe da pesquisa
1.
Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4+ T-cells for the treatment of Hyper IgM1.
EMBO J
; 42(23): e114188, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916874
2.
Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype.
Clin Immunol
; 251: 109316, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055004
3.
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
J Clin Immunol
; 42(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664192
4.
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.
J Clin Immunol
; 42(2): 299-311, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718934
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945378
6.
Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.
J Clin Immunol
; 42(4): 783-797, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257272
7.
Diagnosis and management of neutropenia in children: The approach of the Study Group on Neutropenia and Marrow Failure Syndromes of the Pediatric Italian Hemato-Oncology Association (Associazione Italiana Emato-Oncologia Pediatrica - AIEOP).
Pediatr Blood Cancer
; 69(6): e29599, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253359
8.
Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia.
Clin Immunol
; 230: 108802, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34298181
9.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398909
10.
Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity.
J Allergy Clin Immunol
; 146(5): 967-983, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827505
11.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome.
J Allergy Clin Immunol
; 146(5): 1165-1179.e11, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32311393
12.
Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.
J Allergy Clin Immunol
; 146(2): 429-437, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169379
13.
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
J Clin Immunol
; 40(4): 610-618, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307643
14.
Health-Related Quality of Life and Emotional Difficulties in Chronic Granulomatous Disease: Data on Adult and Pediatric Patients from Italian Network for Primary Immunodeficiency (IPINet).
J Clin Immunol
; 40(2): 289-298, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863244
15.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.
J Allergy Clin Immunol
; 143(1): 325-334.e2, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29906526
16.
Idiopathic neutropenia of infancy: Data from the Italian Neutropenia Registry.
Am J Hematol
; 94(2): 216-222, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30456824
17.
Epstein-Barr virus-associated smooth muscle tumor in a female with ataxia telangiectasia: A case report.
Pediatr Blood Cancer
; 71(7): e31019, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616383
18.
Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.
J Pediatr Hematol Oncol
; 41(4): e266-e269, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30044346
19.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
J Allergy Clin Immunol
; 141(1): 322-328.e10, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28392333
20.
Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent.
Clin Immunol
; 193: 52-59, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410324