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DOI 10.1084/jem.20182295

Медицинская библиотека · The Journal of experimental medicine · 2019

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Hernandez Nicholas, Bucciol Giorgia, Moens Leen, Le Pen Jérémie, Shahrooei Mohammad, Goudouris Ekaterini, Shirkani Afshin, Changi-Ashtiani Majid, Rokni-Zadeh Hassan, Sayar Esra Hazar, Reisli Ismail, Lefevre-Utile Alain, Zijlmans Dick, Jurado Andrea, Pholien Ruben, Drutman Scott, Belkaya Serkan, Cobat Aurelie, Boudewijns Robbert, Jochmans Dirk, Neyts Johan, Seeleuthner Yoann, Lorenzo-Diaz Lazaro, Enemchukwu Chibuzo, Tietjen Ian, Hoffmann Hans-Heinrich, Momenilandi Mana, Pöyhönen Laura, Siqueira Marilda M, de Lima Sheila M Barbosa, de Souza Matos Denise C, Homma Akira, Maia Maria de Lourdes S, da Costa Barros Tamiris Azamor, de Oliveira Patricia Mouta Nunes, Mesquita Emersom Ciclini, Gijsbers Rik, Zhang Shen-Ying, Seligman Stephen J, Abel Laurent, Hertzog Paul, Marr Nico, Martins Reinaldo de Menezes, Meyts Isabelle, Zhang Qian, MacDonald Margaret R, Rice Charles M, Casanova Jean-Laurent, Jouanguy Emmanuelle, Bossuyt Xavier

Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: Hernandez Nicholas, Bucciol Giorgia, Moens Leen, Le Pen Jérémie, Shahrooei Mohammad, Goudouris Ekaterini, Shirkani Afshin, Changi-Ashtiani Majid, Rokni-Zadeh Hassan, Sayar Esra Hazar, Reisli Ismail, Lefevre-Utile Alain, Zijlmans Dick, Jurado Andrea, Pholien Ruben, Drutman Scott, Belkaya Serkan, Cobat Aurelie, Boudewijns Robbert, Jochmans Dirk, Neyts Johan, Seeleuthner Yoann, Lorenzo-Diaz Lazaro, Enemchukwu Chibuzo, Tietjen Ian, Hoffmann Hans-Heinrich, Momenilandi Mana, Pöyhönen Laura, Siqueira Marilda M, de Lima Sheila M Barbosa, de Souza Matos Denise C, Homma Akira, Maia Maria de Lourdes S, da Costa Barros Tamiris Azamor, de Oliveira Patricia Mouta Nunes, Mesquita Emersom Ciclini, Gijsbers Rik, Zhang Shen-Ying, Seligman Stephen J, Abel Laurent, Hertzog Paul, Marr Nico, Martins Reinaldo de Menezes, Meyts Isabelle, Zhang Qian, MacDonald Margaret R, Rice Charles M, Casanova Jean-Laurent, Jouanguy Emmanuelle, Bossuyt Xavier. Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.. The Journal of experimental medicine. 2019. DOI: 10.1084/jem.20182295.

Предметные рубрики MeSH

AdolescentAllelesChildFemaleHumansImmunityInfantInheritance PatternsInterferon Type IMaleMeasles VaccineMutant ProteinsMutationPedigreeReceptor, Interferon alpha-betaSignal TransductionYellow Fever Vaccine
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