Publications by authors named "Jacinta Bustamante"

100Publications

Multibatch Cytometry Data Integration for Optimal Immunophenotyping.

J Immunol 2020 Nov 23. Epub 2020 Nov 23.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.

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http://dx.doi.org/10.4049/jimmunol.2000854DOI Listing
November 2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Authors:
Qian Zhang Paul Bastard Zhiyong Liu Jérémie Le Pen Marcela Moncada-Velez Jie Chen Masato Ogishi Ira K D Sabli Stephanie Hodeib Cecilia Korol Jérémie Rosain Kaya Bilguvar Junqiang Ye Alexandre Bolze Benedetta Bigio Rui Yang Andrés Augusto Arias Qinhua Zhou Yu Zhang Fanny Onodi Sarantis Korniotis Léa Karpf Quentin Philippot Marwa Chbihi Lucie Bonnet-Madin Karim Dorgham Nikaïa Smith William M Schneider Brandon S Razooky Hans-Heinrich Hoffmann Eleftherios Michailidis Leen Moens Ji Eun Han Lazaro Lorenzo Lucy Bizien Philip Meade Anna-Lena Neehus Aileen Camille Ugurbil Aurélien Corneau Gaspard Kerner Peng Zhang Franck Rapaport Yoann Seeleuthner Jeremy Manry Cecile Masson Yohann Schmitt Agatha Schlüter Tom Le Voyer Taushif Khan Juan Li Jacques Fellay Lucie Roussel Mohammad Shahrooei Mohammed F Alosaimi Davood Mansouri Haya Al-Saud Fahd Al-Mulla Feras Almourfi Saleh Zaid Al-Muhsen Fahad Alsohime Saeed Al Turki Rana Hasanato Diederik van de Beek Andrea Biondi Laura Rachele Bettini Mariella D'Angio' Paolo Bonfanti Luisa Imberti Alessandra Sottini Simone Paghera Eugenia Quiros-Roldan Camillo Rossi Andrew J Oler Miranda F Tompkins Camille Alba Isabelle Vandernoot Jean-Christophe Goffard Guillaume Smits Isabelle Migeotte Filomeen Haerynck Pere Soler-Palacin Andrea Martin-Nalda Roger Colobran Pierre-Emmanuel Morange Sevgi Keles Fatma Çölkesen Tayfun Ozcelik Kadriye Kart Yasar Sevtap Senoglu Şemsi Nur Karabela Carlos Rodríguez-Gallego Giuseppe Novelli Sami Hraiech Yacine Tandjaoui-Lambiotte Xavier Duval Cédric Laouénan Andrew L Snow Clifton L Dalgard Joshua D Milner Donald C Vinh Trine H Mogensen Nico Marr András N Spaan Bertrand Boisson Stéphanie Boisson-Dupuis Jacinta Bustamante Anne Puel Michael J Ciancanelli Isabelle Meyts Tom Maniatis Vassili Soumelis Ali Amara Michel Nussenzweig Adolfo García-Sastre Florian Krammer Aurora Pujol Darragh Duffy Richard P Lifton Shen-Ying Zhang Guy Gorochov Vivien Béziat Emmanuelle Jouanguy Vanessa Sancho-Shimizu Charles M Rice Laurent Abel Luigi D Notarangelo Aurélie Cobat Helen C Su Jean-Laurent Casanova

Science 2020 10 24;370(6515). Epub 2020 Sep 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1126/science.abd4570DOI Listing
October 2020

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report.

Allergy Asthma Clin Immunol 2020 3;16:77. Epub 2020 Sep 3.

Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (FCEyN-UBA) e Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Pabellón 2 de Ciudad Universitaria, Buenos Aires, Argentina.

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http://dx.doi.org/10.1186/s13223-020-00473-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7491304PMC
September 2020

Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review.

J Clin Immunol 2020 Nov 12;40(8):1144-1155. Epub 2020 Sep 12.

Department of Infectious Diseases and Tropical Medicine, Centre d'Infectiologie Necker -Pasteur, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades University Hospital, Université de Paris, Paris, France.

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http://dx.doi.org/10.1007/s10875-020-00866-8DOI Listing
November 2020

A genome-wide case-only test for the detection of digenic inheritance in human exomes.

Proc Natl Acad Sci U S A 2020 08 27;117(32):19367-19375. Epub 2020 Jul 27.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France;

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http://dx.doi.org/10.1073/pnas.1920650117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430978PMC
August 2020

Disseminated Infectious Disease Caused by Histoplasma capsulatum in an Adult Patient as First Manifestation of Inherited IL-12Rβ1 Deficiency.

J Clin Immunol 2020 Oct 24;40(7):1051-1054. Epub 2020 Jul 24.

Immunodeficiencies Research Unit, National Institute of Pediatrics, 9th Floor, Av. Iman #1, Insurgentes-Cuicuilco, 04530, Mexico City, Mexico.

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http://dx.doi.org/10.1007/s10875-020-00828-0DOI Listing
October 2020

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency.

Front Immunol 2020 26;11:1161. Epub 2020 Jun 26.

Department of Clinical and Experimental Sciences, Department of Pediatrics, A. Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.3389/fimmu.2020.01161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333364PMC
June 2020

Interleukin 12-23 deficiency in the interferon gamma pathway in a 6-month-old toddler who has BCG vaccine complications.

Dermatol Ther 2020 Jul 11:e13999. Epub 2020 Jul 11.

Laboratory of Human Genetics of Infectious Diseases, Institut National De La Santé Et De La Recherche Médicale, Paris, France.

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http://dx.doi.org/10.1111/dth.13999DOI Listing
July 2020

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

J Allergy Clin Immunol 2020 Jun 10. Epub 2020 Jun 10.

University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.jaci.2020.05.046DOI Listing
June 2020

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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http://dx.doi.org/10.1002/mgg3.1237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284029PMC
June 2020

Perianal Disease and Granulomas: Think Out of the Box….

GE Port J Gastroenterol 2020 Feb 1;27(2):119-123. Epub 2019 Oct 1.

Pediatric Gastroenterology Unit, Centro Hospitalar Universitário do São João, Porto, Portugal.

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http://dx.doi.org/10.1159/000502358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113594PMC
February 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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http://dx.doi.org/10.1007/s10875-020-00750-5DOI Listing
April 2020

Mendelian susceptibility to mycobacterial disease: recent discoveries.

Hum Genet 2020 Jun 5;139(6-7):993-1000. Epub 2020 Feb 5.

Imagine Institute, Paris University, Paris, France.

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http://dx.doi.org/10.1007/s00439-020-02120-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275902PMC
June 2020

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.

N Engl J Med 2020 01;382(5):437-445

From St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University (S.B.D., D.H., N.H., S.B., F.R., B.B., R.F., E.J., J.B., L.A., S.B.-D., J.-L.C.), the Department of Microbiology and Immunology, Weill Cornell Medicine (R.B., C.N.), and Howard Hughes Medical Institute (J.-L.C.) - all in New York; the Pediatric Respiratory Diseases Research Center (D.M., S.A.M.), the Department of Clinical Immunology and Infectious Diseases (D.M., N. Mansouri), and the Clinical Tuberculosis and Epidemiology Research Center (D.M., M.M.), National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (A.-L.N., L.L.-D., E.J., J.B., L.A., S.B.-D., V.B., J.-L.C.), Paris University, Imagine Institute (A.-L.N., L.L.-D., E.J., J.B., L.A., S.B.-D., V.B., J.-L.C.), and the Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP) (J.B.), and the Pediatric Immunology-Hematology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, and the Department of Pathology, Ambroise Paré Hospital, AP-HP, Boulogne-Billancourt (J.-F.E.) - all in France; the Institute of Experimental Hematology, Hannover Medical School, Hannover, Germany (A.-L.N.); the Research Branch, Sidra Medicine (M.R., T.K., F.A.A., N. Marr), and the College of Health and Life Sciences, Hamad Bin Khalifa University (N. Marr), Doha, Qatar; and the Division of Pulmonary Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland (N. Mansouri).

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http://dx.doi.org/10.1056/NEJMoa1910640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063989PMC
January 2020

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.

N Engl J Med 2020 01;382(3):256-265

From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department of Pediatrics, College of Medicine, Imam Mohammed bin Saud University (A.A.), and the Department of Radiology and Medical Imaging, King Saud University Medical City (H.H.H.) - all in Riyadh, Saudi Arabia; the Departments of Microbiology and Pediatrics and the Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai (M.M.-F., X.Q., S.B., C.G., D.B.), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University (E.J., J.-L.C., J.B.), and Howard Hughes Medical Institute (J.-L.C.) - all in New York; Paris Descartes University, Imagine Institute, and the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (T.L.V., E.J., J.-L.C., J.B.), and the Pediatric Hematology and Immunology Unit (J.-L.C.) and the Center for the Study of Primary Immunodeficiencies (J.B.), Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children - all in Paris; the Department of Pediatrics, Assiut Faculty of Medicine, Assiut University, Assiut, Egypt (G.M.H.); and Sharjah Institute for Medical Research, Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates (R.H.).

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http://dx.doi.org/10.1056/NEJMoa1905633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155173PMC
January 2020

Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections.

J Clin Immunol 2020 02 15;40(2):359-366. Epub 2020 Jan 15.

Mycology Unit of the Infectious Diseases Hospital F.J. Muñiz, Reference Center of Mycology of Buenos Aires City, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s10875-019-00740-2DOI Listing
February 2020

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.

J Clin Immunol 2020 01 23;40(1):165-178. Epub 2019 Nov 23.

Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic.

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http://dx.doi.org/10.1007/s10875-019-00720-6DOI Listing
January 2020

A New Patient with Inherited TYK2 Deficiency.

J Clin Immunol 2020 01 11;40(1):232-235. Epub 2019 Nov 11.

Immunology, Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, 4th Floor, Building No.3, Children's Medical Center, Gharib St, Keshavarz Blvd, Tehran, 1419733154, Iran.

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http://dx.doi.org/10.1007/s10875-019-00713-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218688PMC
January 2020

Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease.

Iran J Allergy Asthma Immunol 2019 Aug 17;18(4):447-451. Epub 2019 Aug 17.

Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.

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http://dx.doi.org/10.18502/ijaai.v18i4.1425DOI Listing
August 2019

Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature.

J Clin Immunol 2019 10 5;39(7):743-746. Epub 2019 Aug 5.

Department of Pediatric Infectious Diseases and Immunology, School of Medicine, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362 octavo piso, 8330077, Santiago, Chile.

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http://dx.doi.org/10.1007/s10875-019-00678-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159191PMC
October 2019

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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http://dx.doi.org/10.1007/s10875-019-00667-8DOI Listing
October 2019

Correction to: Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

J Clin Immunol 2019 Jul;39(5):527

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1007/s10875-019-00653-0DOI Listing
July 2019

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

J Clin Immunol 2019 05 23;39(4):376-390. Epub 2019 May 23.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1007/s10875-019-00642-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192346PMC
May 2019

Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency.

J Clin Immunol 2019 05 17;39(4):358-362. Epub 2019 May 17.

Department of Pediatrics, Allergy Immunology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1007/s10875-019-00637-0DOI Listing
May 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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http://dx.doi.org/10.1007/s10875-019-00595-7DOI Listing
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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http://link.springer.com/10.1007/s10875-019-0593-4
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http://dx.doi.org/10.1007/s10875-019-0593-4DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S00916749183277
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http://dx.doi.org/10.1016/j.jaci.2018.10.068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7117880PMC
June 2019

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.

Sci Immunol 2018 12;3(30)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

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http://immunology.sciencemag.org/lookup/doi/10.1126/sciimmun
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http://dx.doi.org/10.1126/sciimmunol.aau8714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341984PMC
December 2018

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Immunol Cell Biol 2019 04 25;97(4):360-367. Epub 2018 Oct 25.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, Necker Hospital for Sick Children, Paris, France.

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http://doi.wiley.com/10.1111/imcb.12210
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http://dx.doi.org/10.1111/imcb.12210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438774PMC
April 2019

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl.

J Clin Immunol 2018 08 23;38(6):712-716. Epub 2018 Jul 23.

Functional Unit of Clinical Immunology and Primary Immunodeficiencies, Hospital Sant Joan de Déu, University of Barcelona, Pediatric Research Institute Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10875-018-0535-6DOI Listing
August 2018

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

J Clin Immunol 2018 05 18;38(4):460-463. Epub 2018 May 18.

DST/NRF Centre of Excellence for Biomedical Tuberculosis Research; South African Medical Research Council Centre for Tuberculosis Research; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, PO Box 241, 8000, Francie van Zijl Drive, Tygerberg, Cape Town, 7505, South Africa.

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http://link.springer.com/10.1007/s10875-018-0509-8
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http://dx.doi.org/10.1007/s10875-018-0509-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478027PMC
May 2018

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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http://dx.doi.org/10.1016/j.jaip.2018.02.014DOI Listing
November 2019

[Disseminated infection by M. tuberculosis complex in patient with IFN-γ receptor 1 complete deficiency].

Rev Alerg Mex 2017 Oct-Dec;64(4):499-504

Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Inmunología. Ciudad de México, México.

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http://dx.doi.org/10.29262/ram.v64i4.329DOI Listing
July 2019

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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http://dx.doi.org/10.1542/peds.2016-1668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654388PMC
November 2017

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.

Pediatr Dev Pathol 2017 Jun 27;20(3):255-261. Epub 2017 Jan 27.

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

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http://dx.doi.org/10.1177/1093526616686255DOI Listing
June 2017

Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients.

J Clin Immunol 2017 Feb 27;37(2):113-116. Epub 2017 Jan 27.

Clinical Immunology and Internal Medicine, Center for Rare Autoimmune Diseases, Strasbourg University Hospital, CNRS 3572, Strasbourg, France.

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http://dx.doi.org/10.1007/s10875-017-0370-1DOI Listing
February 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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http://dx.doi.org/10.12932/AP0790DOI Listing
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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http://dx.doi.org/10.1002/pbc.26362DOI Listing
June 2017

Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.

Curr Protoc Immunol 2016 11 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.

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http://dx.doi.org/10.1002/cpim.15DOI Listing
November 2016

Use of corticosteroids as an alternative to surgical treatment for liver abscesses in chronic granulomatous disease.

Pediatr Blood Cancer 2016 12 20;63(12):2254-2255. Epub 2016 Jul 20.

Clinical Immunology Department, Instituto Nacional de Pediatría, Mexico City, Mexico.

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http://doi.wiley.com/10.1002/pbc.26140
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http://dx.doi.org/10.1002/pbc.26140DOI Listing
December 2016

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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http://dx.doi.org/10.1007/s10875-016-0322-1DOI Listing
October 2016

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.

Iran J Public Health 2016 Mar;45(3):370-5

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851752PMC
March 2016

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.

Iran J Public Health 2016 Feb;45(2):249-54

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841880PMC
February 2016

IL-12 drives functional plasticity of human group 2 innate lymphoid cells.

J Exp Med 2016 Apr 14;213(4):569-83. Epub 2016 Mar 14.

Innate Immunity Unit, Institut Pasteur, 75724 Paris, France Institut National de la Santé et de la Recherche Médicale (INSERM) U1223, 75015 Paris, France

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http://dx.doi.org/10.1084/jem.20151750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821648PMC
April 2016

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.

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http://dx.doi.org/10.1097/INF.0000000000001127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4865404PMC
June 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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http://dx.doi.org/10.1016/j.jaci.2015.11.041DOI Listing
July 2016

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.

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http://dx.doi.org/10.1007/s10875-016-0238-9DOI Listing
April 2016

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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http://dx.doi.org/10.24953/turkjped.2016.03.019DOI Listing
June 2017

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.

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http://dx.doi.org/10.1007/s10875-015-0223-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720548PMC
January 2016

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.

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http://dx.doi.org/10.1093/infdis/jiv757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4779307PMC
April 2016

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.

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http://dx.doi.org/10.1016/j.jaci.2015.09.018DOI Listing
March 2016

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

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http://dx.doi.org/10.1073/pnas.1518646112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640721PMC
November 2015

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

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

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 U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

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http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

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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http://dx.doi.org/10.1002/pbc.25625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4651008PMC
November 2015