Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.
Eur J Immunol
; 52(7): 1171-1189, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562849
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.
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Heart Fail Clin
; 18(1): 155-164, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34776076
8.
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
J Clin Immunol
; 41(4): 756-768, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33464451
9.
In Ataxia-Telangiectasia, Oral Betamethasone Administration Ameliorates Lymphocytes Functionality through Modulation of the IL-7/IL-7Rα Axis Paralleling the Neurological Behavior: A Comparative Report of Two Cases.
Immunol Invest
; 50(2-3): 295-303, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32397775
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.
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
13.
Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children.
Eur J Pediatr
; 178(1): 51-60, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269248
14.
Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey.
Am J Med Genet A
; 176(10): 2128-2134, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30207636
15.
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.
J Clin Immunol
; 37(8): 751-758, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28932937
16.
DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.
Am J Med Genet A
; 173(7): 1913-1918, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28436605
17.
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.
Clin Immunol
; 161(2): 131-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307434
18.
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
BMC Med Genet
; 15: 1, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24383682
19.
Clinical features and follow-up in patients with 22q11.2 deletion syndrome.
J Pediatr
; 164(6): 1475-80.e2, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24657119
20.
Reduced atherosclerotic burden in subjects with genetically determined low oxidative stress.
Arterioscler Thromb Vasc Biol
; 33(2): 406-12, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23288160