List of works - Kimberly Gilmour

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

scientific article published on 6 May 2015

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

scientific article published on 31 January 2012

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

scientific article published on 01 November 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

scientific article published on 08 August 2014

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

scientific article

Capture and generation of adenovirus specific T cells for adoptive immunotherapy

scientific article published on 8 November 2006

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

scientific article published on 26 August 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

scientific article published on 30 October 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

scientific article published on 2 January 2013

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

scientific article published in July 2018

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

scientific article

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

scientific article published on 21 October 2016

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

scientific article published on 23 February 2007

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

scientific article

Failure of SCID-X1 gene therapy in older patients

scientific article

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

scientific article published in August 2007

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

scientific article

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

scientific article published in August 2011

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

scientific article published on 27 March 2014

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

scientific article

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

scientific article published on September 2008

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

scientific article published on 22 February 2013

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

scientific article published on 12 March 2021

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

scientific article published in August 2011

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

scientific article published on 2 February 2018

Molecular diagnosis of congenital immunodeficiency

scientific article published in 2004

Norovirus Infections Occur in B-Cell-Deficient Patients

scientific article

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

scientific article published on 09 January 2012

Pathogenesis and diagnosis of X-linked lymphoproliferative disease.

scientific article published on September 2003

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

scientific article published on 15 January 2004

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

scientific article

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

scientific article published in February 2009

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

scientific article

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

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

scientific article published on 25 April 2005

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

scientific article published on 19 April 2011

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

scientific article published on 5 August 2016

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

scientific article

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

scientific article

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

scientific article published in September 2010

List of works by 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