Detalhe da pesquisa
1.
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
J Clin Immunol
; 44(5): 105, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676773
2.
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
3.
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
Hum Genomics
; 16(1): 40, 2022 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36123612
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.
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
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.
Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies.
J Immunol
; 205(11): 2979-2987, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115853
8.
Refractory immune thrombocytopenia successfully treated with bortezomib in a child with 22q11.2 deletion syndrome, complicated by Evans syndrome and hypogammaglobulinemia.
Platelets
; 33(5): 801-806, 2022 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132908
9.
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
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.
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
12.
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.
Int J Mol Sci
; 21(22)2020 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33203071
13.
Neoadjuvant chemotherapy in triple-negative breast cancer: A multicentric retrospective observational study in real-life setting.
J Cell Physiol
; 233(3): 2313-2323, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28710865
14.
SARS-CoV-2 infection and treatment in a cohort of patients with inborn errors of immunity.
Pediatr Allergy Immunol
; 33(8): e13833, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36003051
15.
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
J Allergy Clin Immunol
; 138(1): 241-248.e3, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26936803
16.
[Transient hypogammaglobulinemia of infancy]. / Hypogammaglobulinémie transitoire de l'enfant.
Rev Med Suisse
; 13(557): 739-742, 2017 Apr 05.
Artigo
em Francês
| MEDLINE | ID: mdl-28722362
17.
Neonatal Erythroderma as an Early Sign of Primary Immunodeficiency.
J Pediatr
; 230: 260-261, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152372
18.
A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation.
J Clin Immunol
; 40(6): 927-933, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32617782
19.
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
J Clin Immunol
; 34(8): 904-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135595
20.
Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.
J Clin Immunol
; 34(4): 452-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24596025