Detalhe da pesquisa
1.
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
2.
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
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.
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
5.
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
6.
Activated phosphoinositide 3-dinase delta syndrome (APDS): An update.
Pediatr Allergy Immunol
; 33 Suppl 27: 69-72, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35080319
7.
Host Defenses to Viruses: Lessons from Inborn Errors of Immunity.
Medicina (Kaunas)
; 58(2)2022 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35208572
8.
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
9.
Thyroid carcinoma in two patients with ataxia-telangiectasia: Tailored diagnostic and therapeutic use of radioiodine.
Pediatr Blood Cancer
; 70(10): e30535, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37391869
10.
Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria.
Pediatr Allergy Immunol
; 33(5): e13782, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616898
11.
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
12.
Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot.
Pediatr Dermatol
; 34(3): e152-e153, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28523880
13.
The Role of NK Cells in EBV Infection and Related Diseases: Current Understanding and Hints for Novel Therapies.
Cancers (Basel)
; 15(6)2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980798
14.
Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement.
Front Pediatr
; 11: 1129249, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37033173
15.
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.
Front Genet
; 14: 1276697, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38075699
16.
Targeted treatment of autoimmune cytopenias in primary immunodeficiencies.
Front Immunol
; 13: 911385, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36052091
17.
Case Report: Successful Treatment With Monoclonal Antibodies in One APDS Patient With Prolonged SARS-CoV-2 Infection Not Responsive to Previous Lines of Treatment.
Front Immunol
; 13: 891274, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35799775
18.
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
Front Immunol
; 13: 919237, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35967303
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36090979
20.
Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.
Immun Inflamm Dis
; 9(2): 583-594, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33838017