Publications


The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
J Clin Immunol 2017 Dec 11. Epub 2017 Dec 11.
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
J Clin Immunol 2017 Dec 11. Epub 2017 Dec 11.
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, ARC 1216-I 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA.

Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals.
Curr Opin Microbiol 2017 Nov 9;40:46-57. Epub 2017 Nov 9.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, EU, France; Paris Descartes University, Imagine Institute, 75015 Paris, EU, France. Electronic address:


Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies.
Curr Opin Immunol 2017 Oct 6;48:122-133. Epub 2017 Oct 6.
Pediatric Hematology and Immunology Unit, Hôpital Necker Enfants Malades, AP-HP, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Hôpital Necker Enfants Malades, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Howard Hughes Medical Institute, New York, NY, USA.



STAT1 gain of function and STAT3 loss of function mutations impair IL-17 and IL-22 immunity associated with CMC.
J Invest Dermatol 2017 Oct 17. Epub 2017 Oct 17.
Chair and Institute of Environmental Medicine, UNIKA-T, Technical University Munich and Helmholtz Zentrum München - German Research Center for Environmental Health, Augsburg, Germany; CK Care, Christine Kühne Center for Allergy Research and Education, Davos, Switzerland; Outpatient Clinic for environmental diseases, Klinikum Augsburg, Germany. Electronic address:

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.



T-cell Responses to HSV-1 in Persons Who Have Survived Childhood Herpes Simplex Encephalitis.
Pediatr Infect Dis J 2017 Aug;36(8):741-744
From the *Department of Medicine, University of Washington, Seattle, Washington; †Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, University Paris Descartes, Imagine Institute, Paris 75015, France; ‡St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York; §Department of Laboratory Medicine, University of Washington, ¶Department of Global Health, University of Washington, ‖Vaccine and Infectious Diseases Division, Fred Hutchinson Cancer Research Center, and **Benaroya Research Institute, Seattle, Washington.

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.
Eur J Med Genet 2017 Aug 30;60(8):426-432. Epub 2017 May 30.
Centro de Desenvolvimento da Criança, Hospital Pediátrico, CHUC, Coimbra, Portugal; Serviço de Bioquímica, Faculdade de Medicina, Universidade de Coimbra, Portugal.



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:

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.
Acta Microbiol Immunol Hung 2017 Jun 9;64(2):191-201. Epub 2017 Jun 9.
1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences , Tehran, Iran.






Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.
J Am Coll Cardiol 2017 Apr;69(13):1653-1665
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France; Pediatric Immunology-Hematology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute, The Rockefeller University, New York, New York.

Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.
J Allergy Clin Immunol 2017 Mar 20;139(3):933-949. Epub 2016 Aug 20.
Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia. Electronic address:



Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.
Cell 2017 Feb;168(5):789-800.e10
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. Electronic address:



Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.
Clin Immunol 2016 Dec 28;173:117-120. Epub 2016 Sep 28.
Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Department of Immunology, Complutense University School of Medicine, Hospital 12 de Octubre Health Research Institute, Madrid, Spain. 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.

Exome and genome sequencing for inborn errors of immunity.
J Allergy Clin Immunol 2016 Oct;138(4):957-969
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Howard Hughes Medical Institute, New York, NY; Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, 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:



A human inborn error connects the α's.
Nat Immunol 2016 May;17(5):472-4
St. Giles Laboratory of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA; the Howard Hughes Medical Institute, New York, New York, USA; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; the Imagine Institute, Paris Descartes University, Paris, France; and the Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.

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.


Anti-IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia.
J Allergy Clin Immunol 2016 Mar 29;137(3):945-8.e8. Epub 2015 Oct 29.
Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan; Division of Infectious Diseases, Department of Internal Medicine, China Medical University Hospital, Taichung, Taiwan.

A novel mutation in the POLE2 gene causing combined immunodeficiency.
J Allergy Clin Immunol 2016 Feb 11;137(2):635-638.e1. Epub 2015 Sep 11.
Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass; Department of Laboratory Medicine, Joint Program in Transfusion Medicine, Boston Children's Hospital, Boston, Mass; Department of Pathology, Harvard Medical School, Boston, Mass. Electronic address:

Host genetics of severe influenza: from mouse Mx1 to human IRF7.
Curr Opin Immunol 2016 Feb 4;38:109-20. Epub 2016 Jan 4.
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, INSERM-U1163, Necker Hospital for Sick Children, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Howard Hughes Medical Institute, New York, NY, USA; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.

Actin polymerisation after FCγR stimulation of human fibroblasts is BCL10 independent.
Clin Immunol 2016 Feb 14;163:120-2. Epub 2016 Jan 14.
Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid 28046, Spain; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid 28046, Spain. Electronic address:

The mutation significance cutoff: gene-level thresholds for variant predictions.
Nat Methods 2016 Feb;13(2):109-10
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, 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.


Human genetic basis of interindividual variability in the course of infection.
Proc Natl Acad Sci U S A 2015 Dec 30;112(51):E7118-27. Epub 2015 Nov 30.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Howard Hughes Medical Institute, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 75015 Paris, France; Imagine Institute, Paris Descartes University, 75015 Paris, France; Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, 75015 Paris, France

Severe infectious diseases of childhood as monogenic inborn errors of immunity.
Proc Natl Acad Sci U S A 2015 Dec 30;112(51):E7128-37. Epub 2015 Nov 30.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Howard Hughes Medical Institute, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 75015 Paris, France; Imagine Institute, Paris Descartes University, 75015 Paris, France; Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, 75015 Paris, France

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.

Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.
J Allergy Clin Immunol 2015 Nov 12;136(5):1139-49. Epub 2015 Aug 12.
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University Paris Descartes, Imagine Institute, Paris, France.



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




Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
J Exp Med 2015 Jun 25;212(6):939-51. Epub 2015 May 25.
Division of Immunology and The Manton Center for Orphan Disease Research, Department of Pathology, Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 Harvard Stem Cell Institute, Harvard University, Boston, MA 02115

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
N Engl J Med 2015 Jun;372(25):2409-22
From the Division of Immunology (K.D., J.C., S.K., M.J.M., K.C., K.F., T.A.C., R.S.G., L.D.N.) and Manton Center for Orphan Disease Research (L.D.N.), Boston Children's Hospital, and Department of Molecular Biology, Massachusetts General Hospital (T.K.O.), Boston, Harvard Stem Cell Institute, Harvard University, Cambridge (L.D.N.), and Department of Pediatrics, University of Massachusetts Medical School, Worcester (A.M.C.) - all in Massachusetts; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (C.D.C., I.B., N.K.S., M.S., C.B., K.B.), Department of Pediatrics and Adolescent Medicine, Medical University of Vienna (K.B.), and CeRUD Vienna Center for Rare and Undiagnosed Diseases (K.B.) - all in Vienna; St. Giles Laboratory of Human Genetics of Infectious Disease, Rockefeller Branch, Rockefeller University (S.-Y.Z., M.A., S.O., B.B., Y.I., L.A., J.-L.C.), and Institute for Genomic Medicine, Columbia University (S. Petrovski, D.B.G.) - both in New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (S.-Y.Z., V.P., L.A., J.-L.C.), Paris Descartes University, Sorbonne Paris Cité, Imagine Institute (S.-Y.Z., F.R., P.L., L.A., J.-L.C.), and Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children (J.-L.C.) - all in Paris; Howard Hughes Medical Institute, Chevy Chase, MD (J.-L.C.); Department of Molecular and Translational Medicine, University of Brescia, Brescia (S. Parolini, O.P., G.T.), and Department of Experimental Medicine and Center of Excellence for Biomedical Research, University of Genoa, Genoa (A.M.) - both in Italy; Folkhälsan Institute of Genetics and Research Programs Unit, Molecular Neurology (E.H.), Institute for Molecular Medicine Finland (J.S.), Children's Hospital (M.K.), Research Programs Unit, Diabetes and Obesity Research Program (M.K.), and Folkhälsan Research Center (M.K.), University of Helsinki and Helsinki University Central Hospital, Helsinki, Tampere Center

More than Meets the Eye: Monogenic Autoimmunity Strikes Again.
Immunity 2015 Jun;42(6):986-8
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, Necker Hospital for Sick Children, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Pediatric Hematology & Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France. Electronic address:

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.

Interferon-gamma-dependent Immunity in Bacillus Calmette-Guérin Vaccine Osteitis Survivors.
Pediatr Infect Dis J 2016 06;35(6):690-4
From the *Center for Child Health Research, University of Tampere and University Hospital and †School of Health Sciences, University of Tampere, Tampere, Finland; ‡Department of Pediatrics, University Hospital, Kuopio, Finland; §Department of Infectious Disease Surveillance and Control, National Institute for Health and Welfare, ¶Department of Pediatrics, University of Turku and University Hospital, and ‖Department of Medical Microbiology and Immunology, University of Turku, Turku, Finland; **St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University and ††Howard Hughes Medical Institute, New York, NY; and ‡‡Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, §§Paris Descartes University, Imagine Institute, ¶¶Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, and ‖‖Center for the Study of Primary Immunodeficiencies, Paris AP-HP, Necker-Enfants Malades Hospital, Paris, France, EU.

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Blood 2016 06 25;127(25):3154-64. Epub 2016 Apr 25.
Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Infectious and Tropical Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.
Proc Natl Acad Sci U S A 2016 06 31;113(24):6713-8. Epub 2016 May 31.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France; Imagine Institute, Paris Descartes University, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065;


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