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Emilia Cirillo

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
2010 · Claire Booth, Kimberly C. Gilmour, et al. · Blood · 323
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Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome
2014 · Caterina Cancrini, Pamela Puliafito, et al. · The Journal of Pediatrics · 162
Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
2014 · Emilia Cirillo, Giuliana Giardino, et al. · BMC Medical Genetics · 121
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Severe combined immunodeficiency—an update
2015 · Emilia Cirillo, Giuliana Giardino, et al. · Annals of the New York Academy of Sciences · 99
Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality
2020 · Vassilios Lougaris, Annarosa Soresina, et al. · Journal of Allergy and Clinical Immunology · 85
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Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia
2010 · T. Broccoletti, E. Del Giudice, et al. · European Journal of Neurology · 76
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
2016 · Vera Gallo, Laura Dotta, et al. · Frontiers in Immunology · 69
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Reduced Atherosclerotic Burden in Subjects With Genetically Determined Low Oxidative Stress
2013 · Francesco Violi, Pasquale Pignatelli, et al. · Arteriosclerosis Thrombosis and Vascular Biology · 57
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In ataxia‐teleangiectasia betamethasone response is inversely correlated to cerebellar atrophy and directly to antioxidative capacity
2009 · I. Russo, C. Cosentino, et al. · European Journal of Neurology · 54
Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET)
2018 · Baldassarre Martire, Chiara Azzari, et al. · Vaccine · 47
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Severe Combined Immunodeficiences: New and Old Scenarios
2012 · Giuseppina Aloj, Giuliana Giardino, et al. · International Reviews of Immunology · 45
Clinical Manifestations of 22q11.2 Deletion Syndrome
2021 · Annapaola Cirillo, Michele Lioncino, et al. · Heart Failure Clinics · 43
Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network
2019 · Emilia Cirillo, Caterina Cancrini, et al. · Frontiers in Immunology · 42
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NADPH Oxidase Deficiency: A Multisystem Approach
2017 · Giuliana Giardino, Maria Pia Cicalese, et al. · Oxidative Medicine and Cellular Longevity · 42
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Unbalanced Immune System: Immunodeficiencies and Autoimmunity
2016 · Giuliana Giardino, Vera Gallo, et al. · Frontiers in Pediatrics · 41
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Different Degrees of NADPH Oxidase 2 Regulation and In Vivo Platelet Activation: Lesson From Chronic Granulomatous Disease
2014 · Roberto Carnevale, Lorenzo Loffredo, et al. · Journal of the American Heart Association · 41
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De novo 13q12.3–q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A‐T like phenotype
2012 · Emilia Cirillo, Rosa Romano, et al. · American Journal of Medical Genetics Part A · 40
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
2017 · Vera Gallo, Emilia Cirillo, et al. · Journal of Clinical Immunology · 38
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Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome
2013 · Giuliana Giardino, Emilia Cirillo, et al. · Scandinavian Journal of Gastroenterology · 36
T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features
2020 · Giuliana Giardino, Carla Borzacchiello, et al. · Frontiers in Immunology · 35
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Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children
2018 · Viviana Moschese, Loredana Chini, et al. · European Journal of Pediatrics · 35
The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)
2022 · Giuliana Giardino, Cinzia Milito, et al. · Journal of Clinical Immunology · 34
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
2021 · Giuliana Giardino, Svetlana O. Sharapova, et al. · Journal of Clinical Immunology · 33
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Novel Findings into AIRE Genetics and Functioning: Clinical Implications
2016 · Lucia De Martino, Donatella Capalbo, et al. · Frontiers in Pediatrics · 28
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Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task
2012 · Mario Quarantelli, Giuliana Giardino, et al. · European Journal of Paediatric Neurology · 26
Works count: 109
Citation count: 2,081
H-index: 25
I10-index: 45
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