List of works - Eleonora Gambineri

A new case of IPEX receiving bone marrow transplantation

scientific article published on 01 May 2005

Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11).

scientific article published in June 2010

CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface

scientific article published on 08 February 2019

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

scientific article published on 25 October 2008

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

scientific article published on 01 November 2018

Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).

scientific article published on 27 December 2011

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

scientific article

Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome.

scientific article published on 20 January 2012

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

scholarly article by Lorenzo Loffredo published in April 2013

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome

scientific article published on 25 March 2013

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

scientific article published on 27 October 2016

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

scientific article published on 14 March 2011

Genetic disorders with immune dysregulation

scientific article published on 9 October 2011

Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation.

scientific article published on 25 October 2014

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

scientific article published on 5 October 2009

Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection.

scientific article published in January 2008

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

scientific article

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

scientific article

ICON: the early diagnosis of congenital immunodeficiencies

scientific article published on 12 March 2014

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

scientific article

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis

scientific article

Immunodeficiencies with autoimmune consequences.

scientific article

Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis.

scientific article

Lack of transmission of TT virus through immunoglobulins

scientific article published in December 2001

Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells?

scientific article published on 16 March 2014

Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

scientific article published on 18 October 2014

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

scientific article published on 11 December 2017

Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations

scientific article published on 30 June 2017

Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression

scientific article published on 09 May 2019

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

scientific article published on July 2008

Novel molecular defects associated with very early-onset inflammatory bowel

scientific article published on 16 August 2017

Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells

scientific article published on 30 October 2010

Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

scientific article published in January 2012

Role of regulatory T cells and FOXP3 in human diseases.

scientific article

Safety and immunogenicity of measles–mumps–rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome)

scientific article published on 01 February 2005

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

scientific article

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

scientific article published on 25 November 2013

Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis.

scientific article published on 31 July 2009

The evolution of cellular deficiency in GATA2 mutation

scientific article published on 17 December 2013

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

scientific article published on 22 July 2010

Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).

scientific article published on 26 October 2009

Timely follow-up of a GATA2 deficiency patient allows successful treatment

scientific article

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome

scientific article published on 15 October 2018

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

scientific article

List of works by Eleonora Gambineri

A new case of IPEX receiving bone marrow transplantation

Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11).

CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome.

Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

Genetic disorders with immune dysregulation

Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation.

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

Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection.

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

ICON: the early diagnosis of congenital immunodeficiencies

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis

Immunodeficiencies with autoimmune consequences.

Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis.

Lack of transmission of TT virus through immunoglobulins

Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells?

Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations

Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

Novel molecular defects associated with very early-onset inflammatory bowel

Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells

Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Role of regulatory T cells and FOXP3 in human diseases.

Safety and immunogenicity of measles–mumps–rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome)

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis.

The evolution of cellular deficiency in GATA2 mutation

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).

Timely follow-up of a GATA2 deficiency patient allows successful treatment

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.