Publications


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.

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies.
Pediatr Blood Cancer 2017 Jun 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.



Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
J Allergy Clin Immunol 2016 Jul 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:

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.



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:



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


MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.
Blood 2012 Sep 7;120(13):2719-22. Epub 2012 Jun 7.
Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche (UMR) 1009, Villejuif, France.

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.

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.
Turk J Pediatr 2016 ;58(3):331-336
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, INSERM-U1163, Paris, France.



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