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Autoantibodies Against Type I Ifns in Humans With Alternative Nf-Κb Pathway Deficiency Publisher Pubmed



Le Voyer T1, 2 ; Parent AV3 ; Liu X3 ; Cederholm A4 ; Gervais A1, 2 ; Rosain J1, 2, 5 ; Nguyen T6, 7 ; Perez Lorenzo M1, 2 ; Rackaityte E8 ; Rinchai D9 ; Zhang P9 ; Bizien L1, 2 ; Hancioglu G10 ; Ghillanidalbin P11 Show All Authors
Authors
  1. Le Voyer T1, 2
  2. Parent AV3
  3. Liu X3
  4. Cederholm A4
  5. Gervais A1, 2
  6. Rosain J1, 2, 5
  7. Nguyen T6, 7
  8. Perez Lorenzo M1, 2
  9. Rackaityte E8
  10. Rinchai D9
  11. Zhang P9
  12. Bizien L1, 2
  13. Hancioglu G10
  14. Ghillanidalbin P11
  15. Charuel JL11
  16. Philippot Q1, 2
  17. Gueye MS1, 2
  18. Maglorius Renkilaraj MRL1, 2
  19. Ogishi M9
  20. Soudee C1, 2
  21. Migaud M1, 2
  22. Rozenberg F12
  23. Momenilandi M1, 2
  24. Riller Q13
  25. Imberti L14
  26. Delmonte OM15
  27. Muller G16, 17
  28. Keller B17, 18
  29. Orrego J19
  30. Franco Gallego WA19
  31. Rubin T20
  32. Emiroglu M21
  33. Parvaneh N22
  34. Eriksson D23, 24, 25
  35. Arandaguillen M25
  36. Berrios DI3
  37. Vong L26, 27
  38. Katelaris CH28
  39. Mustillo P29
  40. Raedler J30
  41. Bohlen J1, 2
  42. Bengi Celik J31
  43. Astudillo C32, 33
  44. Winter S34
  45. Boissondupuis S1, 2, 9
  46. Oksenhendler E73
  47. Okada S109
  48. Caluseriu O110
  49. Ursini MV111
  50. Ballot E112
  51. Lafarge G11, 87
  52. Freiberger T66
  53. Arangofranco CA1, 2
  54. Levy R1, 2, 52
  55. Aiuti A113
  56. Almuhsen S114
  57. Almulla F115
  58. Andreakos E116
  59. Arias AA9, 117, 118
  60. Feldman HB119
  61. Bastard P1, 2, 9, 52
  62. Bondarenko A120
  63. Borghesi A121
  64. Bousfiha AA122
  65. Brodin P123
  66. Bryceson Y124
  67. Casari G125
  68. Christodoulou J126
  69. Colobran R127
  70. Condinoneto A128
  71. Fellay J129, 130
  72. Flores C131, 132, 133
  73. Franco JL19
  74. Haerynck F134
  75. Halwani R114, 135
  76. Hammarstrom L39, 40
  77. Heath JR136
  78. Hsieh EWY137
  79. Itan Y138, 139
  80. Kaja E140
  81. Kisand K141
  82. Ku CL142
  83. Ling Y143
  84. Lau YL144
  85. Mansouri D145
  86. Meyts I146, 147
  87. Milner JD148
  88. Mogensen TH149
  89. Novelli A150
  90. Novelli G151
  91. Okamoto K152
  92. Ozcelik T153
  93. De Diego RP154
  94. Pereztur J155
  95. Perlin DS156
  96. Prando C157
  97. Pujol A158, 159, 160
  98. Quintanamurci L161
  99. Renia L163, 164
  100. Resnick I165
  101. Rodriguezgallego C133, 166
  102. Sanchoshimizu V167, 168
  103. Sediva A55
  104. Seppanen MRJ169, 170
  105. Shahrooei M78
  106. Shcherbina A171
  107. Palacin PS172
  108. Pesole G173
  109. Spaan AN9
  110. Su HC15, 41
  111. Tancevski I174
  112. Tayoun AA175
  113. Amara A176
  114. Gorochov G177
  115. Temel SG178, 179
  116. Thorball C130
  117. Tiberghien P180
  118. Trouillet Assant S38, 104
  119. Turvey S181
  120. Uddin KMF182
  121. Uddin MJ183, 184
  122. Van De Beek D185
  123. Vidigal M186
  124. Vinh DC187, 188
  125. Von Bernuth H189, 190, 191
  126. Wauters J192
  127. Zatz M186
  128. Zhang SY1, 2, 9
  129. Ng LFP163, 164
  130. Mclean C35
  131. Guffroy A36
  132. Derisi JL8, 37
  133. Yu D3
  134. Miller C3
  135. Feng Y9
  136. Guichard A38
  137. Beziat V1, 2, 9
  138. Bustamante J1, 2, 5, 9
  139. Panhammarstrom Q39, 40
  140. Zhang Y15, 41
  141. Rosen LB15
  142. Holland SM15
  143. Bosticardo M15
  144. Kenney H15
  145. Castagnoli R42, 43
  146. Slade CA44, 45, 46
  147. Boztug K47, 48, 49, 50
  148. Mahlaoui N51, 52
  149. Latour S34
  150. Abraham RS53
  151. Lougaris V54
  152. Hauck F30
  153. Atschekzei F56
  154. Sogkas G56
  155. Poli MC32, 33
  156. Slatter MA57
  157. Palterer B58
  158. Keller MD59
  159. Pinzoncharry A60, 61
  160. Sullivan A60, 61
  161. Droney L60, 61
  162. Suan D60, 62
  163. Wong M60, 62, 63
  164. Kane A7, 60, 64, 65
  165. Hu H60, 64, 65
  166. Ma C6, 7, 60
  167. Grombirikova H66
  168. Ciznar P67
  169. Dalal I68
  170. Aladjidi N69
  171. Hie M70
  172. Lazaro E71
  173. Keles S72
  174. Malphettes M73
  175. Pasquet M74
  176. Maccari ME16, 75
  177. Meinhardt A76
  178. Ikinciogullari A77
  179. Shahrooei M78
  180. Celmeli F80
  181. Frosk P81
  182. Goodnow CC6, 7, 60
  183. Gray PE60, 82
  184. Belot A83, 84, 85
  185. Kuehn HS86
  186. Rosenzweig SD86
  187. Miyara M11, 87
  188. Licciardi F88
  189. Servettaz A89, 90
  190. Barlogis V91
  191. Le Guenno G92
  192. Herrmann VM93
  193. Kuijpers T94
  194. Ducoux G95
  195. Sarrotreynauld F96
  196. Schuetz C97
  197. Cunninghamrundles C98
  198. Rieuxlaucat F13
  199. Tangye SG6, 7, 60
  200. Sobacchi C99, 100
  201. Doffinger R101
  202. Warnatz K17, 18
  203. Grimbacher B16, 17
  204. Fieschi C73, 102
  205. Berteloot L103
  206. Bryant VL44, 45, 46
  207. Neven B52
  208. Abel L1, 2, 9
  209. Zhang Q1, 2, 9
  210. Boisson B1, 2, 9
  211. Cobat A1, 2, 9
  212. Jouanguy E1, 2, 9
  213. Kampe O105
  214. Roifman CM26, 27
  215. Landegren N4, 25
  216. Notarangelo LD15
  217. Anderson MS3, 106
  218. Casanova JL1, 2, 9, 107, 108
  219. Puel A1, 2, 9
Show Affiliations
Authors Affiliations
  1. 1. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France
  2. 2. Paris Cite University, Imagine Institute, Paris, France
  3. 3. Diabetes Center, University of California, San Francisco, San Francisco, CA, United States
  4. 4. Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
  5. 5. Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Paris, France
  6. 6. Garvan Institute of Medical Research, Sydney, NSW, Australia
  7. 7. School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, NSW, Australia
  8. 8. Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, CA, United States
  9. 9. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States
  10. 10. Division of Pediatric Allergy and Immunology, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey
  11. 11. Department of Immunology, AP-HP, Pitie-Salpetriere Hospital, Paris, France
  12. 12. Virology, Cochin-Saint-Vincent de Paul Hospital, University of Paris, Paris, France
  13. 13. Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cite University, Imagine Institute, INSERM UMR1163, Paris, France
  14. 14. Section of Microbiology, University of Brescia, Brescia, Italy
  15. 15. Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States
  16. 16. Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center—University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany
  17. 17. Department of Rheumatology and Clinical Immunology, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
  18. 18. Center for Chronic Immunodeficiency (CCI), Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
  19. 19. Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellin, Colombia
  20. 20. Division of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada
  21. 21. Department of Pediatric Infectious Diseases, Faculty of Medicine, Selcuk University, Konya, Turkey
  22. 22. Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
  23. 23. Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
  24. 24. Department of Immunology, Genetics and Pathology, Section of Clinical Genetics, Uppsala University and University Hospital, Uppsala, Sweden
  25. 25. Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden
  26. 26. Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada
  27. 27. The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada
  28. 28. Immunology and Allergy, University of Western Sydney and Campbelltown Hospital, Campbelltown, NSW, Australia
  29. 29. Division of Allergy and Immunology, Nationwide Children’s Hospital, The Ohio State University College of Medicine, Columbus, OH, United States
  30. 30. Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, Ludwig-Maximilians-Universitat Munchen, Munich, Germany
  31. 31. Department of Anesthesiology and Reanimation, Selcuk University Faculty of Medicine, Konya, Turkey
  32. 32. Hospital de Ninos Roberto del Rio, Santiago, Chile
  33. 33. Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile
  34. 34. Laboratory of Lymphocyte Activation and Susceptibility to EBV, Paris Cite University, Imagine Institute, Inserm UMR1163, Paris, France
  35. 35. Department of Anatomical Pathology, The Alfred Hospital, Prahran, VIC, Australia
  36. 36. Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Strasbourg University Hospital, Strasbourg, France
  37. 37. Chan Zuckerberg Biohub, San Francisco, CA, United States
  38. 38. Joint Unit Hospices Civils de Lyon—BioMerieux, Lyon, France
  39. 39. Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden
  40. 40. Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden
  41. 41. NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, United States
  42. 42. Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy
  43. 43. Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
  44. 44. Immunology Division, Walter and Eliza Hall Institute, Melbourne, VIC, Australia
  45. 45. Dept Medical Biology, University of Melbourne, Parkville, VIC, Australia
  46. 46. Dept Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia
  47. 47. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria
  48. 48. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
  49. 49. Anna Children’s Cancer Research Institute, Vienna, Austria
  50. 50. Anna Children’s Hospital, Vienna, Austria
  51. 51. French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants University Hospital, Assistance Publique-Hopitaux de Paris (AP-HP), Paris, France
  52. 52. Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France
  53. 53. Department of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OH, United States
  54. 54. Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia ASST-Spedali Civili di Brescia, Brescia, Italy
  55. 55. Department of Immunology, Second Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic
  56. 56. Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany
  57. 57. Children’s Haemopoietic Stem Cell Transplant Unit, Great North Children’s Hospital, Newcastle-upon-Tyne Hospital NHS Foundation Trust, Newcastle upon Tyne, United Kingdom
  58. 58. Allergy and Clinical Immunology, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
  59. 59. Division of Allergy and Immunology, Children’s National Medical Center, Washington, DC, United States
  60. 60. Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, NSW, Australia
  61. 61. Immunology and Allergy, Queensland Children’s Hospital, South Brisbane, QLD, Australia
  62. 62. Westmead Clinical School, University of Sydney, Sydney, NSW, Australia
  63. 63. Faculty of Medicine, University of Sydney, Sydney, NSW, Australia
  64. 64. South Western Sydney Clinical School, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia
  65. 65. Department of Immunology, Allergy and HIV, St Vincent’s Hospital, Sydney, NSW, Australia
  66. 66. Centre for Cardiovascular Surgery and Transplantation, Medical Faculty, Masaryk University, Brno, Czech Republic
  67. 67. Department of Paediatrics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovakia
  68. 68. Pediatric Department, E. Wolfson Medical Center, Tel Aviv University, Tel Aviv, Israel
  69. 69. Pediatric Oncology Hematology Unit, University Hospital, Plurithematique CIC (CICP), Centre d’Investigation Clinique (CIC) 1401, Bordeaux, France
  70. 70. Internal Medicine Department, Pitie-Salpetriere Hospital, Paris, France
  71. 71. Department of Internal Medicine & Infectious Diseases, Bordeaux Hospital University, Bordeaux, France
  72. 72. Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey
  73. 73. Clinical Immunology Department, Saint Louis Hospital, Paris, France
  74. 74. Department of Pediatric Hematology, Toulouse University Hospital, Toulouse, France
  75. 75. Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
  76. 76. Department of Pediatric Hematology, Oncology and Immunodeficiencies, University Children’s Hospital Gießen, Giessen, Germany
  77. 77. Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey
  78. 78. Dr. Shahrooei Lab, Tehran, Iran
  79. 79. Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium
  80. 80. Department of Allergy and Immunology, University of Medical Science, Antalya Education and Research Hospital, Antalya, Turkey
  81. 81. Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada
  82. 82. Immunology and Infectious Diseases, Sydney Children’s Hospital Randwick, Western Sydney University, Campbelltown, NSW, Australia
  83. 83. CNRS UMR 5308, ENS, UCBL, Lyon, France
  84. 84. National Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Lyon, France
  85. 85. Immunopathology Federation LIFE, Hospices Civils de Lyon, Lyon, France
  86. 86. Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States
  87. 87. Centre d’Immunologie et des Maladies Infectieuses (CIMI), Sorbonne Universite, INSERM U1135, Paris, France
  88. 88. Department of Pediatrics and Public Health, Universita degli Studi di Torino, Turin, Italy
  89. 89. Internal Medicine, Clinical Immunology and Infectious Diseases Department, University Hospital Center, Reims, France
  90. 90. IRMAIC EA 7509, URCA, Reims, France
  91. 91. CHU Marseille, Hopital La Timone, Service d’Hemato-oncologie Pediatrique, Assistance Publique-Hopitaux de Marseille, Marseille, France
  92. 92. Centre Hospitalier Universitaire Estaing, Clermont-Ferrand, France
  93. 93. Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
  94. 94. Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
  95. 95. Department of Internal Medicine, Edouard Herriot Hospital, Lyon, France
  96. 96. Department of Internal Medicine, Hopital Michallon, CHU de Grenoble Alpes, Grenoble, France
  97. 97. Department of Pediatrics, Universitatsklinikum Carl Gustav Carus, Technische Universitat Dresden, Dresden, Germany
  98. 98. Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, United States
  99. 99. IRCCS Humanitas Research Hospital, Rozzano, Italy
  100. 100. CNR-IRGB, Milan Unit, Milan, Italy
  101. 101. Department of Clinical Biochemistry and Immunology, Addenbrooke’s Hospital, Cambridge, United Kingdom
  102. 102. Paris Cite University, Paris, France
  103. 103. Pediatric Radiology Department, Assistance Publique-Hopitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France
  104. 104. CIRI (Centre International de Recherche en Infectiologie), Universite de Lyon, Universite Claude Bernard Lyon 1, INSERM U1111, CNRS, UMR5308, ENS Lyon, Universite Jean Monnet de Saint-Etienne, Lyon, France
  105. 105. Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
  106. 106. Department of Medicine, University of California, San Francisco, San Francisco, CA, United States
  107. 107. Howard Hughes Medical Institute, New York, NY, United States
  108. 108. Department of Pediatrics, Necker Hospital for Sick Children, Paris, France
  109. 109. Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
  110. 110. Department of Medical Genetics, Faculty of Medicine and Dentistry, College of Health Sciences, Women’s and Children’s Research Institute, University of Alberta, Edmonton, AB, Canada
  111. 111. Institute of Genetics and Biophysics ‘Adriano Buzzati-Traverso’ (CNR), Naples, Italy
  112. 112. Departement d’immunologie biologique, Hopital Saint-Antoine-DMU BioGeMH-AP-HP, Sorbonne Universite, Paris, France
  113. 113. San Raffaele Telethon Institute for Gene Therapy, IRCCS Ospedale San Raffaele, and Vita Salute San Raffaele University, Milan, Italy
  114. 114. Immunology Research Lab, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  115. 115. Department of Genetics and Bioinformatics, Dasman Diabetes Institute, Dasman, Kuwait
  116. 116. Laboratory of Immunobiology, Center for Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
  117. 117. Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellin, Colombia
  118. 118. School of Microbiology, University of Antioquia UdeA, Medellin, Colombia
  119. 119. The Genetics Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
  120. 120. Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine
  121. 121. Neonatology and Neonatal Intensive Care Unit, Fondazione IRCCS Policlinico “San Matteo�, Pavia, Italy
  122. 122. Clinical Immunology Unit, Department of Pediatric Infectious Disease, CHU Ibn Rushd and LICIA, Laboratoire d’Immunologie Clinique, Inflammation et Allergie, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco
  123. 123. SciLifeLab, Department Of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden
  124. 124. Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden
  125. 125. Clinical Genomics, IRCCS San Raffaele Scientific Institute and Vita-Salute San Raffaele University, Milan, Italy
  126. 126. Murdoch Children’s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
  127. 127. Immunology Division, Genetics Department, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute, Vall d’Hebron Barcelona Hospital Campus, UAB, Barcelona, Spain
  128. 128. Department of Immunology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, Brazil
  129. 129. School of Life Sciences, Ecole Polytechnique Federale de Lausanne, Lausanne, Switzerland
  130. 130. Precision Medicine Unit, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland
  131. 131. Research Unit, Hospital Universitario Nuestra Senora de Candelaria, Santa Cruz de Tenerife, CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain
  132. 132. Genomics Division, Instituto Tecnologico y de Energias Renovables (ITER), Santa Cruz de Tenerife, Spain
  133. 133. Department of Clinical Sciences, University Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain
  134. 134. Department of Paediatric Immunology and Pulmonology, Centre for Primary Immunodeficiency Ghent (CPIG), PID Research Laboratory, Jeffrey Modell Diagnosis, Research Centre, Ghent University Hospital, Ghent, Belgium
  135. 135. Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates
  136. 136. Institute for Systems Biology, Seattle, WA, United States
  137. 137. Departments of Pediatrics, Immunology and Microbiology, University of Colorado, School of Medicine, Aurora, CO, United States
  138. 138. Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States
  139. 139. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States
  140. 140. Department of Medical Chemistry and Laboratory Medicine, Poznan University of Medical Sciences, Poznan, Poland
  141. 141. Molecular Pathology, Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
  142. 142. Chang Gung University, Taoyuan County, Taiwan
  143. 143. Shanghai Public Health Clinical Center, Fudan University, Shanghai, China
  144. 144. Department of Paediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong
  145. 145. Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Masih Daneshvari Hospital, Shahid Beheshti, University of Medical Sciences, Tehran, Iran
  146. 146. Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium
  147. 147. Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium
  148. 148. Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, United States
  149. 149. Department of Biomedicine, Aarhus University, Aarhus, Denmark
  150. 150. Laboratory of Medical Genetics, IRCCS Bambino Gesu Children’s Hospital, Rome, Italy
  151. 151. Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy
  152. 152. Tokyo Medical and Dental University, Tokyo, Japan
  153. 153. Department of Molecular Biology and Genetics, Bilkent University, Bilkent, Ankara, Turkey
  154. 154. Institute of Biomedical Research of IdiPAZ, University Hospital “La Paz�, Madrid, Spain
  155. 155. Institut de Biomedicina de Valencia-CSIC, CIBERNED, Unitat Mixta de Neurologia i Genetica, IIS La Fe, Vallencia, Spain
  156. 156. Center for Discovery and Innovation, Hackensack Meridian Health, Nutley, NJ, United States
  157. 157. Faculdades Pequeno Principe, Instituto de Pesquisa Pele Pequeno Principe, Curitiba, Brazil
  158. 158. Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain
  159. 159. Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain
  160. 160. Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain
  161. 161. Human Evolutionary Genetics Unit, CNRS U2000, Institut Pasteur, Paris, France
  162. 162. Human Genomics and Evolution, College de France, Paris, France
  163. 163. A*STAR Infectious Disease Labs, Agency for Science, Technology and Research, Singapore, Singapore
  164. 164. Lee Kong Chian School of Medicine, Nanyang Technology University, Singapore, Singapore
  165. 165. University Hospital St Marina, Varna, Bulgaria
  166. 166. Department of Immunology, University Hospital of Gran Canaria Dr. Negrin, Canarian Health System, Las Palmas de Gran Canaria, Spain
  167. 167. Department of Paediatric Infectious Diseases and Virology, Imperial College London, London, United Kingdom
  168. 168. Centre for Paediatrics and Child Health, Faculty of Medicine, Imperial College London, London, United Kingdom
  169. 169. Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
  170. 170. Rare Diseases Center and Pediatric Research Center, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
  171. 171. Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
  172. 172. Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain
  173. 173. Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari A. Moro, Bari, Italy
  174. 174. Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria
  175. 175. Al Jalila Children’s Hospital, Dubai, United Arab Emirates
  176. 176. Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR 7212, Universite de Paris, Institut de Recherche Saint-Louis, Hopital Saint-Louis, Paris, France
  177. 177. Sorbonne Universite, Inserm, Centre d’Immunologie et des Maladies Infectieuses-Paris (CIMI PARIS), Assistance Publique-Hopitaux de Paris (AP-HP) Hopital Pitie-Salpetriere, Paris, France
  178. 178. Departments of Medical Genetics & Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey
  179. 179. Department of Translational Medicine, Health Sciences Institude, Bursa Uludag University, Bursa, Turkey
  180. 180. Etablissement Francais du Sang, La Plaine-St Denis, France, UMR 1098 RIGHT, Inserm EFS, Universite de Franche-Comte, Besancon, France
  181. 181. BC Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada
  182. 182. Centre for Precision Therapeutics, Genetics & Genomic Medicine Centre, NeuroGen Children’s Healthcare and Lecturer, Holy Family Red Crescent Medical College Dhaka, Dhaka, Bangladesh
  183. 183. College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates
  184. 184. Cellular Intelligence (Ci) Lab, GenomeArc, Toronto, ON, Canada
  185. 185. Department of Neurology, Amsterdam Neuroscience, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands
  186. 186. Biosciences Institute, University of Sao Paulo, Sao Paulo, Brazil
  187. 187. Department of Medicine, Division of Infectious Diseases, McGill University Health Centre, Montreal, QC, Canada
  188. 188. Infectious Disease Susceptibility Program, Research Institute, McGill University Health Centre, Montreal, QC, Canada
  189. 189. Department of Pediatric Pneumology, Immunology and Intensive Care, Charite Universitatsmedizin, Berlin University Hospital Center, Berlin, Germany
  190. 190. Department of Immunology, Labor Berlin, Berlin, Germany
  191. 191. Berlin Institutes of Health (BIH), Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany
  192. 192. Department of General Internal Medicine, Medical Intensive Care Unit, University Hospitals Leuven, Leuven, Belgium

Source: Nature Published:2023


Abstract

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases. © 2023, The Author(s).
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