Lista de obras - Raffaele Badolato - Dominio Público Uruguay

A new case of IPEX receiving bone marrow transplantation

artículo científico publicado en 2005

A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family

scientific article published on 22 May 2012

A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1.

artículo científico publicado en 2007

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome

artículo científico publicado en 2004

Antiretroviral use in Italian children with perinatal HIV infection over a 14-year period.

artículo científico

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?

artículo científico publicado en 2003

B cell responses to CpG correlate with CXCL16 expression levels in common variable immunodeficiency

article

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings

artículo científico publicado en 2019

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

artículo científico publicado en 2009

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

artículo científico publicado en 2011

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

artículo científico publicado en 2013

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

artículo científico publicado en 2013

Combined decrease of defined B and T cell subsets in a group of common variable immunodeficiency patients.

artículo científico publicado en 2006

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

artículo científico publicado en 2000

Congenital neutropenia: advances in diagnosis and treatment

artículo científico publicado en 2004

Decreased type I interferon receptor-soluble isoform in antiretroviral-treated HIV-positive children.

artículo científico publicado en 2008

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients

artículo científico publicado en 2010

Defect of regulatory T cells in patients with Omenn syndrome

scientific article published on 01 January 2010

Defects of leukocyte migration in primary immunodeficiencies

artículo científico

Development of systemic lupus erythematosus in a young child affected with chronic granulomatous disease following withdrawal of treatment with interferon-gamma

article

Differential expression of surface membrane growth hormone receptor on human peripheral blood lymphocytes detected by dual fluorochrome flow cytometry

scientific article published on 01 October 1994

Disseminated Mycobacterium genavense infection after immunosuppressive therapy shows underlying new composite heterozygous mutations of β1 subunit of IL-12 receptor gene

article

Editorial Commentary:Immunological Nonresponse to Highly Active Antiretroviral Therapy in HIV‐Infected Subjects: Is the Bone Marrow Impairment Causing CD4 Lymphopenia?

article

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5

artículo científico publicado en 2007

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

Five-year follow-up of children with perinatal HIV-1 infection receiving early highly active antiretroviral therapy

artículo científico publicado en 2009

From bone marrow transplantation to cellular therapies: possible therapeutic strategies in managing autoimmune disorders

artículo científico publicado en 2012

Functional defects of dendritic cells in patients with CD40 deficiency

artículo científico publicado en 2003

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms.

artículo científico publicado en 2007

Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features

artículo científico publicado en 2005

Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype

artículo científico publicado en 2022

Immunodeficiencies with autoimmune consequences.

artículo científico publicado en 2006

Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations

artículo científico publicado en 2021

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency

artículo científico publicado en 2016

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

artículo científico publicado en 2006

Is the interruption of antiretroviral treatment during pregnancy an additional major risk factor for mother-to-child transmission of HIV type 1?

artículo científico publicado en 2009

Italian consensus statement on paediatric HIV infection.

scientific article published on June 2010

Leishmania major:Infection of Human Monocytes Induces Expression of IL-8 and MCAF

artículo científico publicado en 1996

Leukocyte circulation: one-way or round-trip? Lessons from primary immunodeficiency patients

artículo científico publicado en 2004

Leukocyte trafficking in primary immunodeficiencies

artículo científico publicado en 2008

Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression

artículo científico publicado en 2001

Mutations ofCD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM ⬇️

artículo científico publicado el 23 de octubre de 2001

Novel insights from adaptor protein 3 complex deficiency

artículo científico publicado en 2007

Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.

artículo científico publicado en 2013

PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients

artículo científico publicado en 2010

Poor health-related quality of life and abnormal psychosocial adjustment in Italian children with perinatal HIV infection receiving highly active antiretroviral treatment

artículo científico publicado en 2010

Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis

artículo científico publicado en 1999

Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia

artículo científico publicado en 2013

Psychosocial issues in children and adolescents with HIV infection evaluated with a World Health Organization age-specific descriptor system.

artículo científico publicado en 2011

Risk of Perinatal HIV Infection in Infants Born in Italy to Immigrant Mothers

article

Role of cytokines, acute-phase proteins, and chemokines in the progression of rheumatoid arthritis.

artículo científico publicado en 1996

Role of dendritic cell-derived CXCL13 in the pathogenesis of Bartonella henselae B-rich granuloma

artículo científico publicado en 2005

SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function

artículo científico publicado en 2011

Serum amyloid A is a chemoattractant: induction of migration, adhesion, and tissue infiltration of monocytes and polymorphonuclear leukocytes

artículo científico publicado en 1994

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation

artículo científico publicado en 2011

Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome

artículo científico publicado en 2012

Toll-like receptor-4 genotype in children with respiratory infections

artículo científico publicado en 2004

Two X-linked agammaglobulinemia patients develop pneumonia as COVID-19 manifestation but recover

artículo científico publicado en 2020

Uncovering an IL-10-dependent NF-κB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients

artículo científico publicado en 2009

Ureteral obstruction in a patient with chronic granulomatous disease, receiving combined prophylaxis with IFN-gamma and antibiotics

artículo científico publicado en 1998

X-chromosome inactivation analysis in a female carrier of FOXP3 mutation

artículo científico publicado en 2002

Lista de obras de Raffaele Badolato

A new case of IPEX receiving bone marrow transplantation

A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family

A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1.

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome

Antiretroviral use in Italian children with perinatal HIV infection over a 14-year period.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?

B cell responses to CpG correlate with CXCL16 expression levels in common variable immunodeficiency

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

Combined decrease of defined B and T cell subsets in a group of common variable immunodeficiency patients.

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

Congenital neutropenia: advances in diagnosis and treatment

Decreased type I interferon receptor-soluble isoform in antiretroviral-treated HIV-positive children.

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients

Defect of regulatory T cells in patients with Omenn syndrome

Defects of leukocyte migration in primary immunodeficiencies

Development of systemic lupus erythematosus in a young child affected with chronic granulomatous disease following withdrawal of treatment with interferon-gamma

Differential expression of surface membrane growth hormone receptor on human peripheral blood lymphocytes detected by dual fluorochrome flow cytometry

Differential expression of surface membrane growth hormone receptor on human peripheral blood lymphocytes detected by dual fluorochrome flow cytometry

Disseminated Mycobacterium genavense infection after immunosuppressive therapy shows underlying new composite heterozygous mutations of β1 subunit of IL-12 receptor gene

Editorial Commentary:Immunological Nonresponse to Highly Active Antiretroviral Therapy in HIV‐Infected Subjects: Is the Bone Marrow Impairment Causing CD4 Lymphopenia?

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

Five-year follow-up of children with perinatal HIV-1 infection receiving early highly active antiretroviral therapy

From bone marrow transplantation to cellular therapies: possible therapeutic strategies in managing autoimmune disorders

Functional defects of dendritic cells in patients with CD40 deficiency

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms.

Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features

Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype

Immunodeficiencies with autoimmune consequences.

Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

Is the interruption of antiretroviral treatment during pregnancy an additional major risk factor for mother-to-child transmission of HIV type 1?

Italian consensus statement on paediatric HIV infection.

Leishmania major:Infection of Human Monocytes Induces Expression of IL-8 and MCAF

Leukocyte circulation: one-way or round-trip? Lessons from primary immunodeficiency patients

Leukocyte trafficking in primary immunodeficiencies

Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression

Mutations ofCD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM ⬇️

Novel insights from adaptor protein 3 complex deficiency

Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.

PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients

Poor health-related quality of life and abnormal psychosocial adjustment in Italian children with perinatal HIV infection receiving highly active antiretroviral treatment

Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis

Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia

Psychosocial issues in children and adolescents with HIV infection evaluated with a World Health Organization age-specific descriptor system.

Risk of Perinatal HIV Infection in Infants Born in Italy to Immigrant Mothers

Role of cytokines, acute-phase proteins, and chemokines in the progression of rheumatoid arthritis.

Role of dendritic cell-derived CXCL13 in the pathogenesis of Bartonella henselae B-rich granuloma

SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function

Serum amyloid A is a chemoattractant: induction of migration, adhesion, and tissue infiltration of monocytes and polymorphonuclear leukocytes

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation

Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome

Toll-like receptor-4 genotype in children with respiratory infections

Two X-linked agammaglobulinemia patients develop pneumonia as COVID-19 manifestation but recover

Uncovering an IL-10-dependent NF-κB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients

Ureteral obstruction in a patient with chronic granulomatous disease, receiving combined prophylaxis with IFN-gamma and antibiotics

X-chromosome inactivation analysis in a female carrier of FOXP3 mutation