Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor ß1 deficiency: Medical and immunological implications

Autor: Fieschi C., Dupuis S., Catherinot E., Feinberg J., Bustamante J., Breiman A., Altare F., Baretto R., Le Deist F., Kayal S., Koch H., Richter D., Brezina M., Aksu G., Wood P., Al-Jumaah S., Raspall M., Da Silva Duarte A.J., Tuerlinckx D., Virelizier J.-L., Fischer A., Enright A., Bernhöft J., Cleary A.M., Vermylen C., Rodriguez-Gallego C., Davies G., Blütters-Sawatzki R., Siegrist C.-A., Ehlayel M.S., Novelli V., Haas W.H., Levy J., Freihorst J., Al-Hajjar S., Nadal D., De Moraes Vasconcelos D., Jeppsson O., Kutukculer N., Frecerova K., Caragol I., Lammas D., Kumararatne D.S., Abel L., Casanova J.-L.

PubMed ID: 12591909
The clinical phenotype of interleukin 12 receptor ß1 chain (IL-12Rß1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients reported. We now report 41 patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______9436::287d68aaff1c454b1a78581ded52ee1e
https://hdl.handle.net/11454/27896

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

Autor: de Beaucoudrey L; From Laboratory of Human Genetics of Infectious Diseases U980 (LDB, A. Samarina, J. Bustamante, A. Cobat, SBD, J. Feinberg, L. Jannière, YR, MDS, XFK, OFS, A. Chapgier, CP, LA, JLC) and Laboratory of Normal and Pathologic Development of the Immune System U768 (AF), Institut National de la Santé et de la Recherche Médicale, Paris, France; University Paris Descartes (LDB, A. Samarina, J. Bustamante, A. Cobat, SBD, J. Feinberg, L. Jannière, YR, MDS, XFK, OFS, A. Chapgier, CP, AF, LA, JLC), Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases (A. Samarina, SBD, XFK, LA, JLC), The Rockefeller University, New York, New York; Prince Naif Center for Immunology Research (SAM, SAH, ZAS, AA, JLC) and Department of Pediatrics (SAM, ZAS, AA), College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediatrics (SAM, SAH, SAJ, HHF, AAG), King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Study Center of Primary Immunodeficiencies (CP) and Pediatric Hematology-Immunology Unit (AF, JLC), Necker Hospital, AP-HP, Paris, France; Department of Pediatric Allergy and Immunology (FD, AI), Ankara University School of Medicine, Ankara, Turkey; Dr Sami Ulus Children Health and Diseases Training and Research Center (GT), Ankara, Turkey; Department of Pediatrics (SAA), King Abdulaziz Medical City, King Fahad National Guard Hospital, Riyadh, Saudi Arabia; Division of Infectious Diseases and Clinical Immunology (PA, DM), National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Teheran, Iran; Laboratory of Cytoimmunology (IBM, RB), Pasteur Institut of Tunis, Tunis-Belvédère, Tunisia; Department of Immunology (JY, M. Oleastro, AB), Juan-Pedro Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina; Department of Pediatrics (BZG), Schneider Children's Medical Center of Israel, Petah Tiqva, Israel; Department of Immunology (CRG), Gran Canaria Dr Negrin University Hospital, Las Palmas de Gran Canaria, Spain; Laboratory of Immunology (IC), Vall d'Hebron Hospital, Barcelona, Spain; Department of Pediatrics (NK, GA), Ege University Medical School, Izmir, Turkey; Department of Clinical Biochemistry and Immunology (DSK, S. Patel, RD), Addenbrookes Hospital, Cambridge, United Kingdom; Immunology Laboratory and Respiratory Infection, Inflammation and Immunology Unit, Departments of Pathology and Thoracic Medicine (A. Exley), Papworth Hospital NHS Foundation Trust, Cambridge, United Kingdom; Astrid Lindgren Childrens Hospital Karolinska University Hospital (OJ), Huddinge, Sweden; Department of Immunology (JR) and Department of Infectious Diseases (DN), University Children's Hospital of Zurich, Zurich, Switzerland; Lviv Regional Specialized Children's Hospital (YB), Lviv, Ukraine; Department of Immunology (BP, MP), Children's Memorial Health Institute, Warsaw, Poland; Department of Pediatrics (S. Anderson, ML), Imperial College School of Medicine, St Mary's Hospital, London, United Kingdom; Immunobiology Clinic (LS, A. Efira, FM) and Immunodeficiency Department (KS), Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium; Laboratory of Vaccinology and Mucosal Immunity (FM), Université Libre de Bruxelles, Brussels, Belgium; Laboratory of Virus Control (MM), Institute for Virus Research, Kyoto University, Kyoto, Japan; Department of Internal Medicine (TS), National Hospital Organization Kumamoto Medical Center, Kumamoto, Japan; Department of Pediatrics (CAS), University of Geneva, Geneva, Switzerland; Department of International Relations (KF), Ministry of Health, Bratislava, Slovak Republic; Department of Pediatric Hematology and Oncology (RBS), Giessen, Germany; Department of Pediatric Pulmonology and Neonatology (J. Bernhöft), Hannover Medical School, Hannover, Germany; Department of Pediatrics (J. Freihorst, UB), University Hospital Center-Rebro, Zagreb, Croatia; Department of Pediatric Pulmonology and Immunology (FH, FDB), University Hospital Ghent, Ghent, Belgium; Infectious Diseases Unit (VN), Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom; MRC Center for Immune Regulation (DL), The Medical School, University of Birmingham, Birmingham, United Kingdom; Department of Pediatric Hematology and Oncology (CV), Cliniques Universitaires Saint Luc et Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (DT), Mont-Godinne Clinics, Université Catholique de Louvain, Brussels, Belgium; Department of Internal Medicine/Division of Clinical and Experimental Immunology (CN), Maastricht University Medical Centre, Maastricht, The Netherlands; Unit for Respiratory Infections, Department of Infectious Disease Epidemiology (WHH), Robert Koch Institute, Berlin, Germany; Institut für Klinische und Molekulare Virologie (IMF, BF), Universität Erlangen-Nürnberg, Germany; Pediatric Department (JL), Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel; Department of Pediatric Hematology (RR), Apollo Speciality Hospitals, Chennai, India; Department of Pediatrics (ACC, DBL), Stanford University School of Medicine, Stanford, California; Laboratory of Clinical Infectious Diseases (SMH) and Infectious Diseases Susceptibility Unit, Laboratory of Host Defenses (SR), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland; Department of Pediatric Allergy (KDY), Immunology and Rheumatology and Department of Medical Research, Chang Gung Children's Hospital, and Chang Gung University, Kaohsiung, Taiwan; Department of Clinical Immunology (Xiaochuan Wang), Children's Hospital of Fudan University, Shanghai, China; Clinical Immunology Laboratory (Xiqiang Yang), Children's Hospital of Chongqing Medical University, Chongqing, China; Department of Paediatrics and Adolescent Medicine (PPWL, KWC, YLL), Li Ka Shing Faculty of Medicine, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China; Department of Pediatrics (TXC), Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Immunology (GC), Federal University of Bahia, Brazil; University Hospital of Caracas (IN), Caracas, Venezuela; Luis Calvo Mackenna Hospital (A. Codoceo, AK), Santiago, Chile; Department of Immunology (LB, DDG, MIG), Ricardo Gutiérrez Children Hospital, Buenos Aires, Argentina; Laboratory of Investigation in Dermatology and Immunodeficiencies, Department of Dermatology (DDMV, ASG, AJDSD), University of São Paulo Medical School, São Paulo, Brazil; Department of Pulmonology (RA), Children's Hospital Federico Gomez, Mexico City, Mexico; Department of Immunology (FJER), National Institute of Pediatrics, Mexico City, Mexico; National Center of Bone Marrow Graft (MB), Tunis, Tunisia; Clinical Immunology Unit (AAB), Ibn-Rochd Hospital, Casablanca, Morocco; Laboratory of Immunology (JEB), Military Hospital Mohamed V, Hay Riad Rabat, Morocco; Department of Pediatrics (NÖ), Baskent University School of Medicine, Ankara, Turkey; Department of Pediatric Infectious Diseases and Clinical Immunology (MK, A. 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Pedraza), INCMNSZ, Ministry of Health, Mexico City, Mexico; Section of Allergy-Immunology, Department of Pediatrics (MSE), Hamad Medical Corporation, Doha, Qatar; and Adult Immunopathology Unit (CF), Saint-Louis Hospital, AP-HP, Paris, France., Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus Ç, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL

Publikováno v: Medicine [Medicine (Baltimore)] 2010 Nov; Vol. 89 (6), pp. 381-402.

Human IL-23 is essential for IFN-γ–dependent immunity to mycobacteria.

Autor: Philippot, Quentin, Ogishi, Masato, Bohlen, Jonathan, Puchan, Julia, Arias, Andrés Augusto, Nguyen, Tina, Martin-Fernandez, Marta, Conil, Clement, Rinchai, Darawan, Momenilandi, Mana, Mahdaviani, Seyed Alireza, Keramatipour, Mohammad, Rosain, Jérémie, Yang, Rui, Khan, Taushif, Neehus, Anna-Lena, Materna, Marie, Han, Ji Eun, Peel, Jessica, Mele, Federico

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Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.

Autor: Liu, Ming, Lu, Bingtai, Zeng, Ping, Huang, Bing, Xu, Yanhui, Liang, Hanquan, Yang, Diyuan, Yang, Sida, Luo, Hai-bin, Lew, Andrew M., Masters, Seth L., Geng, Lanlan, Zeng, Huasong, Zhang, Yuxia

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Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.

Autor: Ying, Wenjing, Liu, Danru, Dong, Xiaolong, Wang, Wenjie, Hui, Xiaoying, Hou, Jia, Yao, Haili, Zhou, Qinhua, Sun, Bijun, Sun, Jinqiao, Wang, Xiaochuan

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