List of works - Caroline Deswarte

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

scientific article published on 05 February 2019

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

A genome-wide association study of pulmonary tuberculosis in Morocco

scientific article published on 14 January 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

scientific article published on 01 February 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

scientific article published on 9 October 2017

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

scientific article

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

scientific article published on 5 March 2014

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

scientific article

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

scientific article published on July 2016

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

scientific article published on 9 June 2015

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

scientific article published on 19 September 2016

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

scientific article published on 13 May 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

scientific article published on 01 December 2018

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

scientific article

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

scientific article published on 19 December 2018

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

scientific article published on 12 December 2016

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

scientific article

IRF4 haploinsufficiency in a family with Whipple's disease.

scientific article

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.

scientific article

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

scientific article

Inherited human IFNγ deficiency underlies mycobacterial disease

scientific article published on 12 March 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

scientific article

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

scientific article published on 03 August 2019

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

scientific article published on 4 August 2016

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

scientific article published on 10 November 2006

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

scientific article

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

scientific article published on 27 March 2018

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

scientific article

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

scientific article published on 04 February 2019

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

scientific article

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

scientific article

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

scientific article published on 24 December 2014

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

scientific article published on December 2015

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

scientific article

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

scientific article published on 24 May 2016

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

scientific article published on 27 January 2014

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

scientific article published on 11 August 2011

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

scientific article published on 29 February 2024

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

scientific article

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

scientific article published on December 2016

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

scientific article

List of works by 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