Lista de obras - Kimberly Gilmour - Dominio Público Uruguay

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease

artículo científico publicado en 2015

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

artículo científico publicado en 2012

Antitumor activity without on-target off-tumor toxicity of GD2-chimeric antigen receptor T cells in patients with neuroblastoma

artículo científico publicado en 2020

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review

artículo científico publicado en 2014

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

artículo científico publicado en 2016

Capture and generation of adenovirus specific T cells for adoptive immunotherapy

artículo científico publicado en 2006

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency

artículo científico publicado en 2008

Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center

scientific article published on 23 April 2019

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

artículo científico publicado en 2015

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

artículo científico publicado en 2013

Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease

artículo científico publicado en 2018

Coordinated oncogenic transformation and inhibition of host immune responses by the PAX3-FKHR fusion oncoprotein

artículo científico publicado en 2005

Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis.

artículo científico publicado en 2016

Development of anti-PAX3 immune responses; a target for cancer immunotherapy

artículo científico publicado en 2007

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

artículo científico publicado en 2013

Failure of SCID-X1 gene therapy in older patients

artículo científico publicado en 2005

Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo

artículo científico publicado en 2007

Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector

artículo científico publicado en 2004

Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction

artículo científico publicado en 2011

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

artículo científico publicado en 2014

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

artículo científico publicado en 2015

Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients

artículo científico publicado en 2008

Interferon-γ capture T cell therapy for persistent Adenoviraemia following allogeneic haematopoietic stem cell transplantation

artículo científico publicado en 2013

Long-term lymphoid progenitors independently sustain naïve T and NK cell production in humans

artículo científico publicado en 2021

Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency

artículo científico publicado en 2011

Male X-chromosome Mosaicism leading to Carrier Phenotype and inheritance of Chronic Granulomatous Disease.

artículo científico publicado en 2018

Molecular diagnosis of congenital immunodeficiency

artículo científico publicado en 2004

Norovirus Infections Occur in B-Cell-Deficient Patients

artículo científico publicado en 2016

Omission of in vivo T-cell depletion promotes rapid expansion of naïve CD4+ cord blood lymphocytes and restores adaptive immunity within 2 months after unrelated cord blood transplant

artículo científico

Pathogenesis and diagnosis of X-linked lymphoproliferative disease.

artículo científico publicado en 2003

SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease

artículo científico publicado en 2004

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

artículo científico publicado en 2010

Signal transducer and activator of transcription 5 tyrosine phosphorylation for the diagnosis and monitoring of patients with severe combined immunodeficiency

artículo científico publicado en 2009

Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning

artículo científico publicado en 2006

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

The impact of telomere erosion on memory CD8+ T cells in patients with X-linked lymphoproliferative syndrome.

artículo científico publicado en 2005

Third-party virus-specific T cells eradicate adenoviraemia but trigger bystander graft-versus-host disease

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective

artículo científico publicado en 2002

correspondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis

artículo científico publicado en 2010

Lista de obras de Kimberly Gilmour

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

Antitumor activity without on-target off-tumor toxicity of GD2-chimeric antigen receptor T cells in patients with neuroblastoma

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

Capture and generation of adenovirus specific T cells for adoptive immunotherapy

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency

Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease

Coordinated oncogenic transformation and inhibition of host immune responses by the PAX3-FKHR fusion oncoprotein

Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis.

Development of anti-PAX3 immune responses; a target for cancer immunotherapy

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

Failure of SCID-X1 gene therapy in older patients

Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo

Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector

Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients

Interferon-γ capture T cell therapy for persistent Adenoviraemia following allogeneic haematopoietic stem cell transplantation

Long-term lymphoid progenitors independently sustain naïve T and NK cell production in humans

Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency

Male X-chromosome Mosaicism leading to Carrier Phenotype and inheritance of Chronic Granulomatous Disease.

Molecular diagnosis of congenital immunodeficiency

Norovirus Infections Occur in B-Cell-Deficient Patients

Omission of in vivo T-cell depletion promotes rapid expansion of naïve CD4+ cord blood lymphocytes and restores adaptive immunity within 2 months after unrelated cord blood transplant

Pathogenesis and diagnosis of X-linked lymphoproliferative disease.

SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

Signal transducer and activator of transcription 5 tyrosine phosphorylation for the diagnosis and monitoring of patients with severe combined immunodeficiency

Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning

The Human Phenotype Ontology in 2024: phenotypes around the world

The impact of telomere erosion on memory CD8+ T cells in patients with X-linked lymphoproliferative syndrome.

Third-party virus-specific T cells eradicate adenoviraemia but trigger bystander graft-versus-host disease

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

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

X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective

correspondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis