about
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning.Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective.Pathogenesis and diagnosis of X-linked lymphoproliferative disease.Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo.X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.Coordinated oncogenic transformation and inhibition of host immune responses by the PAX3-FKHR fusion oncoprotein.Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 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.Development of anti-PAX3 immune responses; a target for cancer immunotherapy.The impact of telomere erosion on memory CD8+ T cells in patients with X-linked lymphoproliferative syndrome.SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease.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.Capture and generation of adenovirus specific T cells for adoptive immunotherapy.Third-party virus-specific T cells eradicate adenoviraemia but trigger bystander graft-versus-host disease.Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency.Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction.Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector.Failure of SCID-X1 gene therapy in older patients.Signal transducer and activator of transcription 5 tyrosine phosphorylation for the diagnosis and monitoring of patients with severe combined immunodeficiency.Interferon-γ capture T cell therapy for persistent Adenoviraemia following allogeneic haematopoietic stem cell transplantation.Male X-chromosome Mosaicism leading to Carrier Phenotype and inheritance of Chronic Granulomatous Disease.Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiencyConsequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel DiseaseA prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromescorrespondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosisMolecular diagnosis of congenital immunodeficiencyClinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center
P50
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Kimberly Gilmour
@ast
Kimberly Gilmour
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Kimberly Gilmour
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Kimberly Gilmour
@nl
Kimberly Gilmour
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type
label
Kimberly Gilmour
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Kimberly Gilmour
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Kimberly Gilmour
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Kimberly Gilmour
@nl
Kimberly Gilmour
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prefLabel
Kimberly Gilmour
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Kimberly Gilmour
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Kimberly Gilmour
@es
Kimberly Gilmour
@nl
Kimberly Gilmour
@sl
P106
P21
P31
P496
0000-0003-0285-3958