Lista de obras - Caroline Deswarte - Dominio Público Uruguay

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate

artículo científico publicado en 2019

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

A genome-wide association study of pulmonary tuberculosis in Morocco

artículo científico publicado en 2016

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

scientific article published on 12 April 2020

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

artículo científico publicado en 2019

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

scientific article published on 01 November 2018

Acute lymphoblastic leukemia and cutaneous mastocytosis in two children

scientific article published on 01 September 2008

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

artículo científico publicado en 2017

Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco

artículo científico publicado en 2014

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds

artículo científico publicado en 2014

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

artículo científico publicado en 2015

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

scientific article published on 20 August 2018

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

artículo científico publicado en 2016

Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India

artículo científico publicado en 2015

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

artículo científico publicado en 2016

Expression of CD34 and CD7 on human T-cell acute lymphoblastic leukemia discriminates functionally heterogeneous cell populations

artículo científico publicado en 2011

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

scientific article published on 10 February 2020

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

artículo científico publicado en 2018

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

artículo científico publicado en 2015

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

artículo científico publicado en 2018

IL-12Rβ1 defect presenting with massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare: A case report.

artículo científico publicado en 2016

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

artículo científico publicado en 2015

IRF4 haploinsufficiency in a family with Whipple's disease.

artículo científico publicado en 2018

Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

scientific article published on 25 September 2018

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

artículo científico publicado en 2016

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

artículo científico publicado en 2017

Inherited human IFNγ deficiency underlies mycobacterial disease

artículo científico publicado en 2020

Inherited p40phox deficiency differs from classic chronic granulomatous disease

scientific article published on 06 August 2018

Interleukin-18 produced by bone marrow-derived stromal cells supports T-cell acute leukaemia progression

artículo científico publicado en 2014

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

artículo científico publicado en 2019

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

artículo científico publicado en 2016

MAIZEWALL. Database and developmental gene expression profiling of cell wall biosynthesis and assembly in maize.

artículo científico publicado en 2006

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.

artículo científico publicado en 2012

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

artículo científico publicado en 2018

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

artículo científico publicado en 2017

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

artículo científico publicado en 2019

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

artículo científico publicado en 2016

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

artículo científico publicado en 2014

Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency

artículo científico publicado en 2014

Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway

artículo científico publicado en 2015

RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation.

artículo científico publicado en 2012

Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience

artículo científico publicado en 2016

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

artículo científico publicado en 2014

The c.273+11dup genetic change in the WAS gene is a functionally neutral polymorphism

artículo científico publicado en 2011

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

artículo científico publicado en 2024

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

artículo científico publicado en 2014

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Utility of the QuantiFERON®-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children

artículo científico publicado en 2016

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

artículo científico publicado en 2016

Lista de obras de Caroline Deswarte

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

A genome-wide association study of pulmonary tuberculosis in Morocco

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

Acute lymphoblastic leukemia and cutaneous mastocytosis in two children

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Expression of CD34 and CD7 on human T-cell acute lymphoblastic leukemia discriminates functionally heterogeneous cell populations

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

IL-12Rβ1 defect presenting with massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare: A case report.

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

IRF4 haploinsufficiency in a family with Whipple's disease.

Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

Inherited human IFNγ deficiency underlies mycobacterial disease

Inherited p40phox deficiency differs from classic chronic granulomatous disease

Interleukin-18 produced by bone marrow-derived stromal cells supports T-cell acute leukaemia progression

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

MAIZEWALL. Database and developmental gene expression profiling of cell wall biosynthesis and assembly in maize.

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency

Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway

RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation.

Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

The c.273+11dup genetic change in the WAS gene is a functionally neutral polymorphism

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

Utility of the QuantiFERON®-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies