List of works - Andrea Finocchi

A 13-year-old girl with recurrent inguinal lymphadenopathy

scientific article published on 01 April 2014

A 2-month-old male with pyuria and persistent fever.

scientific article published on October 2012

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

scientific article

Bruton's tyrosine kinase defect in dendritic cells from X-linked agammaglobulinaemia patients does not influence their differentiation, maturation and antigen-presenting cell function.

scientific article published in July 2003

Chronic granulomatous disease presenting with salmonella brain abscesses.

scientific article published on May 2014

Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects.

scientific article published on 17 December 2015

Clinical features and follow-up in patients with 22q11.2 deletion syndrome

scientific article published on 20 March 2014

Consanguinity and polygenic diseases: a model for antibody deficiencies

article

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

scientific article published on 10 October 2017

Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

scientific article

Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease.

scientific article published on 29 August 2014

Different degrees of NADPH oxidase 2 regulation and in vivo platelet activation: lesson from chronic granulomatous disease

scientific article

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

scholarly article by Lorenzo Loffredo published in April 2013

Dual-regulated lentiviral vector for gene therapy of X-linked chronic granulomatosis.

scientific article published on 29 May 2014

Etiology, clinical outcome, and laboratory features in children with neutropenia: analysis of 104 cases

scientific article published on 10 December 2013

Evaluation of the relevance of humoral immunodeficiencies in a pediatric population affected by recurrent infections.

scientific article published in December 2002

Evidence of clonotypic pattern of T-cell repertoire in synovial fluid of children with juvenile rheumatoid arthritis at the onset of the disease.

scientific article

Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report.

scientific article published on March 2014

Fulminant Fusobacterium necrophorum meningitis in an immunocompetent adolescent.

scientific article published in July 2012

HLA-haploidentical stem cell transplantation after removal of αβ+ T and B cells in children with nonmalignant disorders

scientific article published on 28 May 2014

Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study

scientific article published on 5 October 2009

How should eosinophilic cystitis be treated in patients with chronic granulomatous disease?

scientific article published on 19 July 2014

How to dissect the plasticity of antigen-specific immune response: a tissue perspective

scientific article published on 31 October 2019

Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)

article

Immunization status of internationally adopted children in Rome, Italy.

scientific article published on May 2015

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

Immunotherapy with an HIV-DNA Vaccine in Children and Adults.

scientific article published on 17 July 2014

Inflammatory Bowel Disease in Chronic Granulomatous Disease: an emerging problem over a twenty years' experience

scientific article published on 5 October 2017

Inherited Human gp91 phox Deficiency Is Associated With Impaired Isoprostane Formation and Platelet Dysfunction

article

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial

scientific article

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

scientific article

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

scientific article

Longitudinal Evaluation of Immune Reconstitution and B-cell Function After Hematopoietic Cell Transplantation for Primary Immunodeficiency.

scientific article

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

scientific article

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

scientific article published on 01 May 2019

Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging.

scientific article published on 24 August 2013

Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment

scientific article published on 30 October 2019

Nox2 Is Determinant for Ischemia-Induced Oxidative Stress and Arterial Vasodilatation: A Pilot Study in Patients With Hereditary Nox2 Deficiency

scientific article published on 01 August 2006

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

scientific article published on 12 July 2012

Pancytopenia and severe sepsis in an adult case of congenital X-linked agammaglobulinemia (XLA).

scientific article published on 15 January 2010

Phenotypical T Cell Differentiation Analysis: A Diagnostic and Predictive Tool in the Study of Primary Immunodeficiencies

scientific article published on 29 November 2019

Post-Natal Ontogenesis of the T-Cell Receptor CD4 and CD8 Vβ Repertoire and Immune Function in Children with DiGeorge Syndrome

scientific article published on 01 May 2005

Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome

scientific article

Rapid T-cell Receptor CD4+ Repertoire Reconstitution and Immune Recovery in Unrelated Umbilical Cord Blood Transplanted Pediatric Leukemia Patients

scientific article published on 01 July 2006

Reduced Atherosclerotic Burden in Subjects With Genetically Determined Low Oxidative Stress

article by Francesco Violi et al published February 2013 in Arteriosclerosis, Thrombosis, and Vascular Biology

Role of reduced intensity conditioning in T-cell and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID.

scientific article published on 11 May 2010

Serratia marcescens Osteomyelitis in a Newborn with Chronic Granulomatous Disease

scientific article published on 01 August 2013

Subcutaneous immunoglobulin replacement therapy in patients with primary immunodeficiency in routine clinical practice: the VISPO prospective multicenter study

scientific article

Successful Treatment With Percutaneous Transhepatic Alcoholization of a Liver Abscess in a Child With Chronic Granulomatous Disease

scientific article published on 01 September 2011

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

article

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

scientific article published on 27 December 2015

Transitory hypogammaglobulinemia of infancy in FG syndrome

scientific article published on 01 November 2005

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

scientific article

gp91phox-dependent expression of platelet CD40 ligand

scientific article (publication date: 7 September 2004)

List of works by Andrea Finocchi

A 13-year-old girl with recurrent inguinal lymphadenopathy

A 2-month-old male with pyuria and persistent fever.

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

Bruton's tyrosine kinase defect in dendritic cells from X-linked agammaglobulinaemia patients does not influence their differentiation, maturation and antigen-presenting cell function.

Chronic granulomatous disease presenting with salmonella brain abscesses.

Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects.

Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Consanguinity and polygenic diseases: a model for antibody deficiencies

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease.

Different degrees of NADPH oxidase 2 regulation and in vivo platelet activation: lesson from chronic granulomatous disease

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

Dual-regulated lentiviral vector for gene therapy of X-linked chronic granulomatosis.

Etiology, clinical outcome, and laboratory features in children with neutropenia: analysis of 104 cases

Evaluation of the relevance of humoral immunodeficiencies in a pediatric population affected by recurrent infections.

Evidence of clonotypic pattern of T-cell repertoire in synovial fluid of children with juvenile rheumatoid arthritis at the onset of the disease.

Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report.

Fulminant Fusobacterium necrophorum meningitis in an immunocompetent adolescent.

HLA-haploidentical stem cell transplantation after removal of αβ+ T and B cells in children with nonmalignant disorders

Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study

How should eosinophilic cystitis be treated in patients with chronic granulomatous disease?

How to dissect the plasticity of antigen-specific immune response: a tissue perspective

Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)

Immunization status of internationally adopted children in Rome, Italy.

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

Immunotherapy with an HIV-DNA Vaccine in Children and Adults.

Inflammatory Bowel Disease in Chronic Granulomatous Disease: an emerging problem over a twenty years' experience

Inherited Human gp91 phox Deficiency Is Associated With Impaired Isoprostane Formation and Platelet Dysfunction

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

Longitudinal Evaluation of Immune Reconstitution and B-cell Function After Hematopoietic Cell Transplantation for Primary Immunodeficiency.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging.

Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment

Nox2 Is Determinant for Ischemia-Induced Oxidative Stress and Arterial Vasodilatation: A Pilot Study in Patients With Hereditary Nox2 Deficiency

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

Pancytopenia and severe sepsis in an adult case of congenital X-linked agammaglobulinemia (XLA).

Phenotypical T Cell Differentiation Analysis: A Diagnostic and Predictive Tool in the Study of Primary Immunodeficiencies

Post-Natal Ontogenesis of the T-Cell Receptor CD4 and CD8 Vβ Repertoire and Immune Function in Children with DiGeorge Syndrome

Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome

Rapid T-cell Receptor CD4+ Repertoire Reconstitution and Immune Recovery in Unrelated Umbilical Cord Blood Transplanted Pediatric Leukemia Patients

Reduced Atherosclerotic Burden in Subjects With Genetically Determined Low Oxidative Stress

Role of reduced intensity conditioning in T-cell and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID.

Serratia marcescens Osteomyelitis in a Newborn with Chronic Granulomatous Disease

Subcutaneous immunoglobulin replacement therapy in patients with primary immunodeficiency in routine clinical practice: the VISPO prospective multicenter study

Successful Treatment With Percutaneous Transhepatic Alcoholization of a Liver Abscess in a Child With Chronic Granulomatous Disease

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

Transitory hypogammaglobulinemia of infancy in FG syndrome

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

gp91phox-dependent expression of platelet CD40 ligand