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Inherited and Acquired Immunodeficiencies Underlying

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Inherited and Acquired Immunodeficiencies Underlying Stephanie Boisson-Dupuis Inherited and acquired Jacinta Bustamante immunodeficiencies underlying Jamila El-Baghdadi Yildiz Camcioglu tuberculosis in childhood Nima Parvaneh Safaa El Azbaoui Aomar Agader Amal Hassani Naima El Hafidi Nidal Alaoui Mrani Zineb Jouhadi Fatima Ailal Jilali Najib Ismail Reisli Adil Zamani Summary: Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more Sebnem Yosunkaya than a million individuals per year worldwide. However, its pathogen- Saniye Gulle-Girit esis remains largely elusive, as only a small proportion of infected indi- viduals develop clinical disease either during primary infection or Alisan Yildiran during reactivation from latency or secondary infection. Subacute, Funda Erol Cipe hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening pri- Selda Hancerli Torun mary TB of childhood can result from known acquired or inherited Ayse Metin immunodeficiencies, although the vast majority of cases remain unex- plained. We review here the conditions conferring a predisposition to Basak Yildiz Atikan childhood clinical diseases caused by mycobacteria, including not only Nevin Hatipoglu M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobac- Cigdem Aydogmus teria are much rarer than TB, but the inherited and acquired immun- Sara Sebnem Kilic odeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into child- Figen Dogu hood TB, as illustrated by the discovery of single-gene inborn errors of Neslihan Karaca IFN-c immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood Guzide Aksu TB in countries that combine a high proportion of consanguineous Necil Kutukculer marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey. Melike Keser-Emiroglu Keywords: primary immunodeficiency, human genetics, IFN-c, children, Mendelian Ayper Somer susceptibility to mycobacterial diseases (MSMD) Gonul Tanir Caner Aytekin Parisa Adimi Seyed Alireza Mahdaviani Setareh Mamishi Aziz Bousfiha Ozden Sanal Davood Mansouri Jean-Laurent Casanova Laurent Abel © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Immunological Reviews 264/2015 103 Boisson-Dupuis et al Á Susceptibility to primary TB in childhood Authors’ addresses 19Department of Pediatric Immunology and Allergy, 1,2,3 1,2,3,4 Stephanie Boisson-Dupuis , Jacinta Bustamante , Jamila Ankara University Medical School, Ankara, Turkey. 5, 6, 7,8, El-Baghdadi *, Yildiz Camcioglu *, Nima Parvaneh *, Safaa El 20Department of Pediatric Infectious Diseases, Istanbul 5,9 10 10 11,12 Azbaoui , Aomar Agader , Amal Hassani , Naima El Hafidi , Medical Faculty, Istanbul University, Istanbul, Turkey. 13 10 14 14 Nidal Alaoui Mrani , Zineb Jouhadi , Fatima Ailal , Jilali Najib , 21Pediatric Immunology Division, Ankara Hematology- 15 16 16 Ismail Reisli , Adil Zamani , Sebnem Yosunkaya , Saniye Gulle- Oncology Hospital of Children, Ankara, Turkey. 17 18 19 20 Girit , Alisan Yildiran , Funda Erol Cipe , Selda Hancerli Torun , 22Department of Pediatric Infectious Diseases, Ege 21 22 23 Ayse Metin , Basak Yildiz Atikan , Nevin Hatipoglu , Cigdem University Faculty of Medicine, Izmir,_ Turkey. 24 25 19 26 Aydogmus , Sara Sebnem Kilic , Figen Dogu , Neslihan Karaca , 23Department of Pediatric Infectious Diseases, Bakirkoy Dr 26 26 27 Guzide Aksu , Necil Kutukculer , Melike Keser-Emiroglu , Ayper Sadi Konuk Training and Research Hospital, Istanbul, 28 29 30 31 Somer , Gonul Tanir , Caner Aytekin , Parisa Adimi , Seyed Turkey. 31 32 33, Alireza Mahdaviani , Setareh Mamishi , Aziz Bousfiha *, Ozden 24Department of Pediatric Allergy and Immunology, 34, 35, 1,2,3,36,37, Sanal *, Davood Mansouri *, Jean-Laurent Casanova **, Kanuni Sultan Suleyman Training and Research Hospital, 1,2,3, Laurent Abel ** Istanbul, Turkey. 1 St. Giles Laboratory of Human Genetics of Infectious 25Department of Pediatric Immunology, Uludag University Diseases, Rockefeller Branch, The Rockefeller University, School of Medicine, Bursa, Turkey. New York, NY, USA. 26Department of Pediatric Immunology, Ege University 2 Laboratory of Human Genetics of Infectious Diseases, Faculty of Medicine, Izmir, Turkey. Necker Branch, Institut National de la Santeetdela 27Department of Pediatric Infectious Diseases, Selcuk Recherche Medicale, INSERM-U1163, Paris, France. University Faculty of Medicine, Konya, Turkey. 3 Paris Descartes University, Imagine Institute, Paris, 28Department of Pediatric Infectious Diseases and Clinical France. Immunology, Istanbul University Faculty of Medicine, 4 Center for the Study of Primary Immunodeficiencies, Istanbul, Turkey. Assistance Publique-Hopitaux^ de Paris AP-HP, Necker 29Department of Pediatric Infectious Disease, Dr. Sami Hospital for Sick Children, Paris, France. Ulus Maternity and Children’s Health and Diseases 5 Genetics Unit, Military Hospital Mohamed V, Hay Riad, Training and Research Hospital, Ankara, Turkey. Rabat, Morocco. 30Department of Pediatric Immunology, Dr. Sami Ulus 6 Pediatric Infectious Diseases, Clinical Immunology and Maternity and Children’s Health and Diseases Training and Allergy Division, Cerrahpasa Medical School, University of Research Hospital, Ankara, Turkey. Istanbul, Istanbul, Turkey. 31Pediatric Respiratory Diseases Research Center, National 7 Research Center for Immunodeficiencies, Tehran Research Institute of Tuberculosis and Lung Diseases University of Medical Sciences, Tehran, Iran. (NRITLD), Shahid Beheshti University of Medical Sciences, 8 Division of Allergy and Clinical Immunology, Department Tehran, Iran. of Pediatrics, Children’s Medical Center, Tehran University 32Department of Pediatrics, Pediatric Infectious Diseases of Medical Sciences, Tehran, Iran. Research Center, Tehran University of Medical Sciences, 9 Faculty of Science-Kenitra, Ibn Tofail University, Kenitra, Tehran, Iran. Morocco. 33Clinical Immunology Unit of the Pediatric Infectious 10 Department of Pediatric Infectious Diseases, Children’s Disease Service P1, Children Hospital of the Averroes Hospital, Ibn Rochd Medical School of Casablanca, University Hospital, Medical and Pharmacy Faculty of the Casablanca, Morocco. King Hassan II University, Casablanca, Morocco. 11 Department of Pediatrics P1, Rabat Children Hospital, 34Pediatric Immunology Division, Faculty of Medicine, Medical and Pharmacy School of Rabat, Rabat, Morocco. University of Hacettepe, Ankara, Turkey. 12 Medbiotechnology Center in Medical and Pharmacy 35Division of Infectious Diseases and Clinical Immunology, School, Rabat, Morocco. Pediatric Respiratory Diseases Research Center, National 13 Department of Pediatric Surgery, Rabat Children Research Institute of Tuberculosis and Lung Diseases, Shahid Hospital, Medical and Pharmacy School of Rabat, Beheshti University of Medical Sciences, Teheran, Iran. Mohamed V University, Rabat, Morocco. 36Howard Hughes Medical Institute, New York, NY, USA. 14 Department of Pediatrics P1, Casablanca Children 37Pediatric Hematology-Immunology Unit, Necker Hospital, Medical and Pharmacy School of Casablanca, Hospital for Sick Children, Paris, France. Hassan II University, Casablanca, Morocco. 15 Department of Pediatric Immunology and Allergy, *Equal contribution. Faculty of Medicine, Necmettin Erbakan University, **Co-senior author. Konya, Turkey. 16 Department of Pulmonary Medicine, Faculty of Correspondence to: Medicine, Necmettin Erbakan University, Konya, Turkey. Stephanie Boisson-Dupuis 17 Department of Pediatric Pulmonology, Dr. Lufti Kirdar The Rockefeller University Kartal Research and Training Hospital, Istanbul, 1230 York Avenue Turkey. New York, NY 10065, USA 18 Department of Pediatric Immunology-Allergy, Ondokuz Tel.: +1 212 327 7328 Mayis University, Atakum-Samsun, Turkey. e-mail: [email protected] © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd 104 Immunological Reviews 264/2015 Boisson-Dupuis et al Á Susceptibility to primary TB in childhood Acknowledgements Introduction We thank all clinicians from many countries around the world for their Tuberculosis: an ancient, deadly disease. help and contribution in the Mycobacterium tuberculosis (M.tb) is the bacterium responsible for investigation of TB patients. Special thanks to A. Strickler and J. F. Emile most cases of human tuberculosis (TB). Other rare causes for providing the pictures. We also include M. bovis, M. africanum and M. canettii (1, 2). M.tb has thank all members of the Necker been causing death and disease in human populations since and Rockefeller branches of the Laboratory of Human Genetics of the Classical era (3). In 1882, Robert Koch discovered a Infectious Diseases. This work was staining technique that made it possible to identify M.tb supported by grants from the (Fig. 1) (4). Bacilli are transmitted by the inhalation of aero- European Research Council (ERC- 2010-AdG-268777), the French solized droplets generated by the coughing of a patient with National Research Agency (ANR) active TB. This disease remains a major public health prob- under “the Investments for the lem. One-third of the world population is thought to be Future” grant number ANR-10- IAHU-01, ANR-08-MIEN-014-02, infected with M.tb, with about 8.6 million new cases and Institut National
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