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1.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38579284
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38231401
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38676773
4.
Immune tolerance breakdown in inborn errors of immunity: Paving the way to novel therapeutic approaches.
Clin Immunol
; 251: 109302, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36967025
5.
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
J Clin Immunol
; 43(8): 2192-2207, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37837580
6.
Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.
Eur J Immunol
; 52(7): 1171-1189, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35562849
7.
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
Am J Hum Genet
; 105(3): 549-561, 2019 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31447097
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35445287
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35257272
10.
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Heart Fail Clin
; 18(1): 155-164, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34776076
11.
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
J Clin Immunol
; 41(4): 756-768, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33464451
12.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
J Clin Immunol
; 41(8): 1878-1892, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34477998
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32397775
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32827505
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32169379
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31863244
17.
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019).
J Clin Immunol
; 40(7): 1026-1037, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32803625
18.
Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome.
J Allergy Clin Immunol
; 144(3): 825-838, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30926529
19.
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
Clin Genet
; 96(2): 169-175, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31066025
20.
Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children.
Eur J Pediatr
; 178(1): 51-60, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30269248