Publications




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.

A novel kindred with inherited STAT2 deficiency and severe viral illness.
J Allergy Clin Immunol 2017 Jun 10;139(6):1995-1997.e9. Epub 2017 Jan 10.
Department of Immunology and Microbiology, Autoimmune Genetics Laboratory, Vlaams Instituut Biotechnologie and KU Leuven, Leuven, Flanders, Belgium. Electronic address:


Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.
Curr Protoc Immunol 2016 Nov 1;115:7.21C.1-7.21C.12. Epub 2016 Nov 1.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York.


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:


Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations.
J Infect Dis 2016 Apr 21;213(7):1173-9. Epub 2015 Dec 21.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Paris Descartes University, Sorbonne Paris Cité, Imagine Institute St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University.

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.
J Clin Immunol 2016 Apr;36(3):335
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA.

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.
J Clin Immunol 2016 Jan 21;36(1):12-5. Epub 2015 Dec 21.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA.

The human gene damage index as a gene-level approach to prioritizing exome variants.
Proc Natl Acad Sci U S A 2015 Nov 19;112(44):13615-20. Epub 2015 Oct 19.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U.1163, Necker Hospital for Sick Children, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY 10065; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France




STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function.
J Exp Med 2015 Jun 4;212(6):855-64. Epub 2015 May 4.
Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia St. Vincent's Clinical School and School of Women's and Children's Health, University of New South Wales, Sydney, NSW 2052, Australia

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.
Immunol Rev 2015 Mar;264(1):103-20
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM-U1163, Paris, France; Paris Descartes University, Imagine Institute, Paris, France.

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities.
J Infect Dis 2015 Jan 20;211(2):317-21. Epub 2014 Aug 20.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U.1163 University Paris Descartes, Sorbonne Paris Cité, Imagine Institute St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch.


Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Semin Immunol 2014 Dec 26;26(6):454-70. Epub 2014 Oct 26.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM-U1163, Paris, France, EU; Paris Descartes University, Imagine Institute, Paris, France, EU; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Howard Hughes Medical Institute, NY, USA; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France, EU.




HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.
BMC Genomics 2014 Apr 3;15:256. Epub 2014 Apr 3.
St, Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.













Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency.
J Clin Immunol 2011 Aug 13;31(4):537-9. Epub 2011 Apr 13.
Mycobacteriology Research Center, Division of Infectious Disease and Clinical Immunology, National Research Institute of Tuberculosis and Lung Diseases, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Darabad, Niavaran, Tehran, Iran.

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.
J Med Genet 2011 Aug 14;48(8):567-71. Epub 2011 May 14.
Laboratoire de Génétique Humaine des Maladies Infectieuses, Université Paris Descartes-INSERM U980, Faculté de Médecine Necker, 156 rue de Vaugirard, Paris, France.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
J Exp Med 2011 Aug 4;208(8):1635-48. Epub 2011 Jul 4.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale U980 and University Paris Descartes, 75015 Paris, France.







Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
Medicine (Baltimore) 2010 Nov;89(6):381-402
Laboratory of Human Genetics of Infectious Diseases U980, Institut National de la Santé et de la Recherche Médicale, Paris, France.

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.
Pediatrics 2010 Oct 20;126(4):e971-6. Epub 2010 Sep 20.
Unit of Biochemistry, National Institute for Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico.







Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
J Exp Med 2008 Aug 14;205(8):1729-37. Epub 2008 Jul 14.
Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, France.

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.
Semin Immunol 2006 Dec 25;18(6):347-61. Epub 2006 Sep 25.
Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes-INSERM U 550, Necker Medical School, 75015 Paris, France, EU.


ARHGAP10 is necessary for alpha-catenin recruitment at adherens junctions and for Listeria invasion.
Nat Cell Biol 2005 Oct 25;7(10):954-60. Epub 2005 Sep 25.
Unité des Interactions Bactéries-Cellules Institut Pasteur, INSERM U604, INRA USC2020, 28 Rue du Dr Roux, 75724 Paris Cedex 15, France.



A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.
Blood 2004 Oct 3;104(7):2095-101. Epub 2004 Jun 3.
Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes (Institut National de la Santé et de la Recherche Médicale U550), Paris, France, EU.



OF