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1.
Impact of newborn screening for SCID on the management of congenital athymia.
J Allergy Clin Immunol;
153(1): 330-334, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37678573
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38676773
3.
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
Br J Haematol;
203(5): 852-859, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37610030
4.
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
5.
Hypogammaglobulinemia in Children After Hematopoietic Stem Cell Transplantation and Rituximab Treatment: Relevance of B Cell Subsets.
J Pediatr Hematol Oncol;
45(1): e145-e149, 2023 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36598967
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34718934
7.
Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.
J Clin Immunol;
42(2): 365-374, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34802108
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.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Hum Genet;
140(9): 1299-1312, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34185153
10.
Fatigue perception in a cohort of children with chronic immune thrombocytopenia and their caregivers using the PedsQL MFS: Real-life multicenter experience of the Italian Association of Pediatric Hematology and Oncology (AIEOP).
Pediatr Blood Cancer;
68(3): e28840, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33274837
11.
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
12.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol;
145(5): 1452-1463, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31887391
13.
Susceptibility to infection in early life: a growing role for human genetics.
Hum Genet;
139(6-7): 733-743, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-31932884
14.
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
J Clin Immunol;
40(4): 610-618, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32307643
15.
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
J Clin Immunol;
40(6): 851-860, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32594341
16.
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.
Clin Chem Lab Med;
58(12): 2063-2072, 2020 11 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32432561
17.
Successful Treatment of an EBV-positive Diffuse Large B-Cell Lymphoma in a Patient With Trisomy 21.
J Pediatr Hematol Oncol;
42(6): e472-e474, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31045623
18.
A mixed-methods study of the disease experience in hematopoietic stem cell transplantation survivors: the contribution of text analysis.
J Psychosoc Oncol;
38(6): 728-745, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32907524
19.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33203071
20.
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX.
J Clin Immunol;
44(4): 100, 2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38625673