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View article: Gene therapy for rare haematological and neurometabolic paediatric diseases
Gene therapy for rare haematological and neurometabolic paediatric diseases Open
Nowadays, gene therapy hast the potential to cure an increasingly greater number of monogenic inherited disorders with absent or limited treatment options, and radically change their natural history. Hematopoietic stem cells (HSCs) represe…
View article: Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency Open
View article: The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase Open
Purpose Inborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with complex or atypical phenotypes, not fulfilling the accepted diagnostic criteria for IEI a…
View article: P005: Atidarsagene autotemcel (hematopoietic stem cell–gene therapy) preserves cognitive and motor development in metachromatic leukodystrophy with up to 12 years follow-up*
P005: Atidarsagene autotemcel (hematopoietic stem cell–gene therapy) preserves cognitive and motor development in metachromatic leukodystrophy with up to 12 years follow-up* Open
Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the arylsulfatase A (ARSA) gene that result in deficiency of the ARSA enzyme. ARSA deficiency leads to accumulation of the u…
View article: Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review
Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review Open
Hemophagocytic inflammatory syndrome (HIS) is a rare form of secondary hemophagocytic lymphohistiocytosis caused by an impaired equilibrium between natural killer and cytotoxic T-cell activity, evolving in hypercytokinemia and multiorgan f…
View article: Outcome of BCG Vaccination in ADA-SCID Patients: A 12-Patient Series
Outcome of BCG Vaccination in ADA-SCID Patients: A 12-Patient Series Open
Vaccination with Bacillus Calmette–Guérin (BCG) can be harmful to patients with combined primary immunodeficiencies. We report the outcome of BCG vaccination in a series of twelve patients affected by adenosine deaminase deficiency (ADA-SC…
View article: <scp>Wiskott–Aldrich</scp>syndrome: Oral findings and microbiota in children and review of the literature
<span>Wiskott–Aldrich</span>syndrome: Oral findings and microbiota in children and review of the literature Open
Objective Wiskott–Aldrich syndrome (WAS) is a rare X‐linked primary immunodeficiency, characterized by micro‐thrombocytopenia, recurrent infections, and eczema. This study aims to describe common oral manifestations and evaluate oral micro…
View article: Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access Open
Orchard Therapeutics, Fondazione Telethon, and GlaxoSmithKline.
View article: A Case of Two Adult Brothers with Wiskott-Aldrich Syndrome, One Treated with Gene Therapy and One with HLA-Identical Hematopoietic Stem Cell Transplantation
A Case of Two Adult Brothers with Wiskott-Aldrich Syndrome, One Treated with Gene Therapy and One with HLA-Identical Hematopoietic Stem Cell Transplantation Open
Wiskott-Aldrich syndrome (WAS) is a rare X-linked
\nprimary immunodefciency characterized by microthrombocytopenia, recurrent infections, eczema, and increased
\nsusceptibility to autoimmunity and tumors. This disease is
\ncaused by mutati…
View article: Peripheral blood stem and progenitor cell collection in pediatric candidates for ex vivo gene therapy: a 10-year series
Peripheral blood stem and progenitor cell collection in pediatric candidates for ex vivo gene therapy: a 10-year series Open
Hematopoietic stem and progenitor cell (HSPC)-based gene therapy (GT) requires the collection of a large number of cells. While bone marrow (BM) is the most common source of HSPCs in pediatric donors, the collection of autologous periphera…
View article: Mild SARS-CoV-2 Infection After Gene Therapy in a Child With Wiskott-Aldrich Syndrome: A Case Report
Mild SARS-CoV-2 Infection After Gene Therapy in a Child With Wiskott-Aldrich Syndrome: A Case Report Open
In this work we present the case of SARS-CoV-2 infection in a 1.5-year-old boy affected by severe Wiskott-Aldrich Syndrome with previous history of autoinflammatory disease, occurring 5 months after treatment with gene therapy. Before SARS…
View article: Emapalumab treatment in an ADA-SCID patient with refractory hemophagocytic lymphohistiocytosis- related graft failure and disseminated bacillus Calmette-Guérin infection
Emapalumab treatment in an ADA-SCID patient with refractory hemophagocytic lymphohistiocytosis- related graft failure and disseminated bacillus Calmette-Guérin infection Open
Emapalumab, a fully human anti-IFNγ monoclonal antibody, has been approved in the US as second-line treatment of primary hemophagocytic lymphohistiocytosis (HLH) patients and has shown promise in patients with graft failure (GF) requiring …
View article: Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels
Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels Open
Very high IgM levels represent the hallmark of hyper IgM (HIGM) syndromes, a group of primary immunodeficiencies (PIDs) characterized by susceptibility to infections and malignancies. Other PIDs not fulfilling the diagnostic criteria for H…
View article: Subcutaneous Immunoglobulin Twenty Percent Every Two Weeks in Pediatric Patients with Primary Immunodeficiencies: Subcohort Analysis of the IBIS Study
Subcutaneous Immunoglobulin Twenty Percent Every Two Weeks in Pediatric Patients with Primary Immunodeficiencies: Subcohort Analysis of the IBIS Study Open
Background: Subcutaneous immunoglobulin G (SCIG) may be a better option than intravenous immunoglobulin G (IVIG) for patients with primary immunodeficiencies (PID) due to reduced systemic and serious adverse reactions and eas…
View article: P29. Glucocorticoid-induced changes in transcription and lymphocytes functionality in Ataxia-Telangiectasia
P29. Glucocorticoid-induced changes in transcription and lymphocytes functionality in Ataxia-Telangiectasia Open
View article: Corrigendum to: “Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET)” [Vaccine 36 (2018) Pages 3541–3542]
Corrigendum to: “Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET)” [Vaccine 36 (2018) Pages 3541–3542] Open
View article: Biweekly Hizentra® in Primary Immunodeficiency: a Multicenter, Observational Cohort Study (IBIS)
Biweekly Hizentra® in Primary Immunodeficiency: a Multicenter, Observational Cohort Study (IBIS) Open
View article: Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET)
Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET) Open
View article: FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches Open
View article: DiGeorge‐like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus
DiGeorge‐like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus Open
Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS. In rare patients, mutations in a single gene, TBX1 , have been describ…
View article: NADPH Oxidase Deficiency: A Multisystem Approach
NADPH Oxidase Deficiency: A Multisystem Approach Open
The immune system is a complex system able to recognize a wide variety of host agents, through different biological processes. For example, controlled changes in the redox state are able to start different pathways in immune cells and are …
View article: A Bronchovascular Anomaly in a Patient With 22q11.2 Deletion Syndrome
A Bronchovascular Anomaly in a Patient With 22q11.2 Deletion Syndrome Open
No abstract available
View article: Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing Open
NGS technologies represent a cost-effective and rapid first-line genetic approach for the evaluation of complex PIDs. WES, despite a moderate higher cost compared to targeted, is emerging as a valuable tool to reach in a timely manner, a P…
View article: Unbalanced Immune System: Immunodeficiencies and Autoimmunity
Unbalanced Immune System: Immunodeficiencies and Autoimmunity Open
Increased risk of developing autoimmune manifestations has been identified in different primary immunodeficiencies (PIDs). In such conditions, autoimmunity and immune deficiency represent intertwined phenomena that reflect inadequate immun…