Lista de obras - Sandra Ammann - Dominio Público Uruguay

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

artículo científico publicado en 2014

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

artículo científico publicado en 2014

Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation

artículo científico publicado en 2013

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients

artículo científico publicado en 2017

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

artículo científico publicado en 2017

First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).

artículo científico publicado en 2015

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

artículo científico publicado en 2017

Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2).

artículo científico publicado en 2014

Multiple sclerosis-associated IL2RA polymorphism controls GM-CSF production in human TH cells

artículo científico publicado en 2014

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

artículo científico publicado en 2016

Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia

artículo científico publicado en 2014

Pathogen-triggered activation of plasmacytoid dendritic cells induces IL-10-producing B cells in response to Staphylococcus aureus

artículo científico publicado en 2013

Plasmacytoid Dendritic Cells: Neglected Regulators of the Immune Response to Staphylococcus aureus

artículo científico publicado en 2014

Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.

artículo científico publicado en 2016

Severe macrophage activation syndrome. Is there a causative role for a homozygous A91V mutation in the perforin gene?

artículo científico publicado en 2015

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency

artículo científico publicado en 2015

The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis

artículo científico publicado en 2016

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

artículo científico publicado en 2013

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

artículo científico publicado en 2015

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses

artículo científico publicado en 2016

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

artículo científico publicado en 2016

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome

artículo científico publicado en 2016

β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.

artículo científico publicado en 2015

Lista de obras de Sandra Ammann

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2).

Multiple sclerosis-associated IL2RA polymorphism controls GM-CSF production in human TH cells

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia

Pathogen-triggered activation of plasmacytoid dendritic cells induces IL-10-producing B cells in response to Staphylococcus aureus

Plasmacytoid Dendritic Cells: Neglected Regulators of the Immune Response to Staphylococcus aureus

Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.

Severe macrophage activation syndrome. Is there a causative role for a homozygous A91V mutation in the perforin gene?

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency

The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome

β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.