Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.,Journal of Experimental Medicine

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Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.
Journal of Experimental Medicine ( IF 12.6 ) Pub Date : 2019-07-03 , DOI: 10.1084/jem.20182295
Nicholas Hernandez ₁ , Giorgia Bucciol ₂ , Leen Moens ₂ , Jérémie Le Pen ₃ , Mohammad Shahrooei _{4,

5} , Ekaterini Goudouris ₆ , Afshin Shirkani ₇ , Majid Changi-Ashtiani ₈ , Hassan Rokni-Zadeh ₉ , Esra Hazar Sayar ₁₀ , Ismail Reisli ₁₀ , Alain Lefevre-Utile ₁₁ , Dick Zijlmans ₃ , Andrea Jurado ₃ , Ruben Pholien ₁₂ , Scott Drutman ₁ , Serkan Belkaya ₁ , Aurelie Cobat ₁₃ , Robbert Boudewijns ₁₂ , Dirk Jochmans ₁₂ , Johan Neyts ₁₂ , Yoann Seeleuthner _{14,

15} , Lazaro Lorenzo-Diaz _{14,

15} , Chibuzo Enemchukwu ₃ , Ian Tietjen ₃ , Hans-Heinrich Hoffmann ₃ , Mana Momenilandi ₄ , Laura Pöyhönen ₁ , Marilda M Siqueira ₁₆ , Sheila M Barbosa de Lima ₁₇ , Denise C de Souza Matos ₁₈ , Akira Homma ₁₉ , Maria de Lourdes S Maia ₁₉ , Tamiris Azamor da Costa Barros ₁₈ , Patricia Mouta Nunes de Oliveira ₁₉ , Emersom Ciclini Mesquita ₁₉ , Rik Gijsbers _{20,

21} , Shen-Ying Zhang _{1,

14,

15} , Stephen J Seligman _{1,

22} , Laurent Abel _{1,

14,

15} , Paul Hertzog ₂₃ , Nico Marr _{24,

25} , Reinaldo de Menezes Martins ₁₉ , Isabelle Meyts _{2,

26,

27} , Qian Zhang ₁ , Margaret R MacDonald ₃ , Charles M Rice ₃ , Jean-Laurent Casanova _{13,

14,

15,

28,

29} , Emmanuelle Jouanguy _{1,

14,

15} , Xavier Bossuyt _{30,

31}

Affiliation

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
Laboratory of Inborn Errors of Immunity, Department of Immunology, Microbiology and Transplantation, KU Leuven, Leuven, Belgium.
Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY.
Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.
Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.
Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Allergy and Clinical Immunology Department, Bushehr University of Medical Science, School of Medicine, Bushehr, Iran.
School of Mathematics, Institute for Research in Fundamental Sciences, Tehran, Iran.
Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
Department of Pediatrics, Division of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
Pediatrics Department, Jean Verdier Hospital, Assistance Publique des Hôpitaux de Paris, Paris 13 University, Bondy, France.
Laboratory of Virology and Chemotherapy, Department of Microbiology and Immunology, Rega Institute for Medical Research, KU Leuven, Leuven, Belgium.
Pediatric Immunology-Hematology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.
Paris Descartes University, Imagine Institute, Paris, France.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.
National Reference Laboratory for Respiratory Viruses, Institute Oswaldo Cruz, Fiocruz, Ministry of Health, Rio de Janeiro, Brazil.
Laboratory of Virological Techniques, Bio-Manguinhos, Fiocruz, Ministry of Health, Rio de Janeiro, Brazil.
Laboratory of Immunological Techniques, Bio-Manguinhos, Fiocruz, Ministry of Health, Rio de Janeiro, Brazil.
Bio-Manguinhos, Fiocruz, Ministry of Health, Rio de Janeiro, Brazil.
Laboratory for Viral Vector Technology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium.
Leuven Viral Vector Core, Leuven, Belgium.
Department of Microbiology and Immunology, New York Medical College, Valhalla, NY.
Hudson Institute of Medical Research, Clayton, Victoria, Australia.
Division of Translational Medicine, Sidra Medicine, Doha, Qatar.
College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
Precision Immunology Institute and Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai, New York, NY.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY
Howard Hughes Medical Institute, New York, NY.
Department of Microbiology, Immunology and Transplantation, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.
Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.

Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR vaccines can be caused by inborn errors of type I and/or III interferon (IFN) immunity (mutations in IFNAR2, STAT1, or STAT2). Adverse reactions to the YF vaccine have remained unexplained. We report two otherwise healthy patients, a 9-yr-old boy in Iran with severe measles vaccine disease at 1 yr and a 14-yr-old girl in Brazil with viscerotropic disease caused by the YF vaccine at 12 yr. The Iranian patient is homozygous and the Brazilian patient compound heterozygous for loss-of-function IFNAR1 variations. Patient-derived fibroblasts are susceptible to viruses, including the YF and measles virus vaccine strains, in the absence or presence of exogenous type I IFN. The patients' fibroblast phenotypes are rescued with WT IFNAR1 Autosomal recessive, complete IFNAR1 deficiency can result in life-threatening complications of vaccination with live attenuated measles and YF viruses in previously healthy individuals.

中文翻译：

在对麻疹和黄热病活疫苗有不良反应的其他健康患者中遗传性IFNAR1缺乏。

用减毒活疫苗对麻疹，腮腺炎和风疹（MMR）和黄热病（YF）进行疫苗接种很少会导致威胁生命的疾病。IMR和/或III型干扰素（IFN）免疫的先天错误（IFNAR2，STAT1或STAT2突变）可能导致MMR疫苗引起的严重疾病。YF疫苗的不良反应仍无法解释。我们报告了另外两名健康的患者，伊朗的一名9岁男孩在1岁时患有严重的麻疹疫苗疾病，巴西的14岁女孩在12岁时患有由YF疫苗引起的内脏疾病。伊朗患者是纯合子，而巴西患者复合是杂合子，其功能丧失了IFNAR1变异。在不存在或存在外源I型IFN的情况下，患者来源的成纤维细胞对包括YF和麻疹病毒疫苗株在内的病毒敏感。

更新日期：2019-09-03

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