Publications by authors named "Caroline Deswarte"

48Publications

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

Mol Genet Genomic Med 2020 06 12;8(6):e1237. Epub 2020 Apr 12.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.

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June 2020

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

J Clin Immunol 2020 04 10;40(3):475-493. Epub 2020 Feb 10.

Imagine Institute, Paris University, Paris, France.

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April 2020

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

J Clin Immunol 2019 10 3;39(7):739-742. Epub 2019 Aug 3.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 24 boulevard du Montparnasse, Paris, EU, France.

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October 2019

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

J Clin Immunol 2019 02 5;39(2):127-130. Epub 2019 Feb 5.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.

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February 2019

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

J Clin Immunol 2019 04 4;39(3):287-297. Epub 2019 Feb 4.

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, 4th Floor, Building no.3, Children's Medical Center, Gharib St, Keshavarz Blvd, 14185-863, Tehran, IR, 14194, Iran.

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April 2019

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

J Allergy Clin Immunol 2019 06 19;143(6):2215-2226.e7. Epub 2018 Dec 19.

VIB Center for Brain & Disease Research, Leuven, Belgium; KU Leuven-University of Leuven, Department of Microbiology and Immunology, Leuven, Belgium. Electronic address:

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June 2019

Disseminated abscesses due to Mycoplasma faucium in a patient with activated PI3Kδ syndrome type 2.

J Allergy Clin Immunol Pract 2018 Sep - Oct;6(5):1796-1798.e2. Epub 2018 Mar 1.

Immunodeficiencies Unit, Department of Pediatrics, University Hospital 12 de Octubre, Research Institute Hospital 12 Octubre (i+12), Complutense University of Madrid, Madrid, Spain. Electronic address:

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November 2019

Homeobox protein TLX3 activates miR-125b expression to promote T-cell acute lymphoblastic leukemia.

Blood Adv 2017 May 4;1(12):733-747. Epub 2017 May 4.

Commissariat à l'Energie Atomique et aux Energies Alternatives, Institut de Radiobiologie Cellulaire et Moléculaire, Laboratoire des Cellules Souches Hématopoïétiques et Leucémiques, Equipe Labellisée Ligue Contre le Cancer, Unité Mixte de Recherche (UMR) 967 Stabilité génomique, cellules souches et radiations, Fontenay-aux-Roses, France.

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May 2017

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

Pediatrics 2017 Nov 12;140(5). Epub 2017 Oct 12.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute.

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November 2017

IL12Rβ1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection.

Asian Pac J Allergy Immunol 2017 Sep;35(3):161-165

Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey Medicine, Department of Pediatrics, Division of Pediatric Allergy and Immunology.

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September 2017

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

Pediatr Blood Cancer 2017 06 22;64(6). Epub 2016 Nov 22.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.

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June 2017

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

J Clin Immunol 2016 10 4;36(7):627-30. Epub 2016 Aug 4.

Department of Immunology and Rheumatology, "Juan Pedro Garrahan" National Hospital of Pediatrics, Combate de los Pozos No. 1881 (CPA: 1245), Buenos Aires, Argentina.

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October 2016

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

J Allergy Clin Immunol 2016 07 28;138(1):241-248.e3. Epub 2016 Feb 28.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY. Electronic address:

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July 2016

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

Pediatr Blood Cancer 2015 Nov 14;62(11):2036-9. Epub 2015 Jul 14.

Pediatric Infectious Diseases and Immunopathology Unit, Hospital Virgen del Rocio, Instituto de Biomedicina de Sevilla, Sevilla, Spain.

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November 2015

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

J Allergy Clin Immunol 2015 May 24;135(5):1393-5.e1. Epub 2014 Dec 24.

Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. Electronic address:

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May 2015

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

EMBO Mol Med 2014 Jun 6;6(6):821-34. Epub 2014 Apr 6.

Commissariat à l'Energie Atomique et aux Energies Alternatives (CEA) DSV-IRCM-SCSR-LSHL Equipe Labellisée Ligue Contre le Cancer UMR 967, Fontenay-aux-Roses, France INSERM U967, Fontenay-aux-Roses, France Université Paris Diderot Sorbonne Paris Cité UMR 967, Fontenay-aux-Roses, France Université Paris-Sud UMR 967, Fontenay-aux-Roses, France

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June 2014

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

Eur J Haematol 2011 Oct 11;87(4):366-71. Epub 2011 Aug 11.

Molecular Immunology and Innovative Biotherapies, INSERM U951, Généthon, Evry, France.

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October 2011

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

Plant Physiol 2007 Jan 10;143(1):339-63. Epub 2006 Nov 10.

Université Paul Sabatier, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 5546, 31326 Castanet-Tolosan, France.

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January 2007