Detalhe da pesquisa
1.
Phase 3 randomized trial of mavorixafor, CXCR4 antagonist, in WHIM syndrome.
Blood
; 2024 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643510
2.
The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.
J Clin Immunol
; 44(2): 47, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231401
3.
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.
J Clin Immunol
; 44(4): 85, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578354
4.
Early anakinra treatment improves cardiac outcome of multisystem inflammatory syndrome in children, regardless of disease severity.
Rheumatology (Oxford)
; 63(2): 366-375, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647645
5.
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients.
J Clin Immunol
; 43(8): 2091-2103, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37755605
6.
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
J Clin Immunol
; 43(8): 2192-2207, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37837580
7.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
8.
Clinical and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function.
Pediatr Blood Cancer
; 70(12): e30671, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37712719
9.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183371
10.
Lack of DOCK8 impairs the primary biologic functions of human NK cells and abrogates CCR7 surface expression in a WASP-independent manner.
Clin Immunol
; 237: 108974, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278713
11.
Lymphocyte alterations in patients with Common Variable Immunodeficiency (CVID) and autoimmune manifestations.
Clin Immunol
; 241: 109077, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35843508
12.
Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.
J Clin Immunol
; 42(2): 365-374, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34802108
13.
The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet).
J Clin Immunol
; 42(5): 935-946, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445287
14.
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
15.
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
Am J Med Genet A
; 188(7): 2129-2134, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266289
16.
Clinical course and risk factors for severe COVID-19 among Italian patients with cystic fibrosis: a study within the Italian Cystic Fibrosis Society.
Infection
; 50(3): 671-679, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34874541
17.
Off-label use of combined antiretroviral therapy, analysis of data collected by the Italian Register for HIV-1 infection in paediatrics in a large cohort of children.
BMC Infect Dis
; 22(1): 55, 2022 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35033018
18.
Increased use of high-flow nasal cannulas after the pandemic in bronchiolitis: a more severe disease or a changed physician's attitude?
Eur J Pediatr
; 181(11): 3931-3936, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083314
19.
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.
J Allergy Clin Immunol
; 147(2): 520-531, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980424
20.
Immune response in children with COVID-19 is characterized by lower levels of T-cell activation than infected adults.
Eur J Immunol
; 50(9): 1412-1414, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592406