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

被引：130

作者：

Hernandez, Nicholas ^{[1
]}

Bucciol, Giorgia ^{[2
]}

Moens, Leen ^{[2
]}

Le Pen, Jeremie ^{[3
]}

Shahrooei, Mohammad ^{[4
,5
]}

Goudouris, Ekaterini ^{[6
]}

Shirkani, Afshin ^{[7
]}

Changi-Ashtiani, Majid ^{[8
]}

Rokni-Zadeh, Hassan ^{[9
]}

Sayar, Esra Hazar ^{[10
]}

Reisli, Ismail ^{[10
]}

Lefevre-Utile, Alain ^{[11
]}

Zijlmans, Dick ^{[3
]}

Jurado, Andrea ^{[3
]}

Pholien, Ruben ^{[1
,12
]}

Drutman, Scott ^{[1
]}

Belkaya, Serkan ^{[1
]}

Cobat, Aurelie ^{[13
]}

Boudewijns, Robbert ^{[12
]}

Jochmans, Dirk ^{[12
]}

Neyts, Johan ^{[12
]}

Seeleuthner, Yoann ^{[14
,15
]}

Lorenzo-Diaz, Lazaro ^{[14
,15
]}

Enemchukwu, Chibuzo ^{[3
]}

Tietjen, Ian ^{[3
,32
]}

Hoffmann, Hans-Heinrich ^{[3
]}

Momenilandi, Mana ^{[4
]}

Poyhonen, Laura ^{[1
]}

Siqueira, Marilda M. ^{[16
]}

Barbosa de Lima, Sheila M. ^{[17
]}

de Souza Matos, Denise C. ^{[18
]}

Homma, Akira ^{[19
]}

Maia, Maria de Lourdes S. ^{[19
]}

da Costa Barros, Tamiris Azamor ^{[18
]}

Nunes de Oliveira, Patricia Mouta ^{[19
]}

Mesquita, Emersom Ciclini ^{[19
]}

Gijsbers, Rik ^{[20
,21
]}

Zhang, Shen-Ying

Seligman, Stephen J. ^{[22
]}

Abel, Laurent ^{[1
,14
,15
]}

Hertzog, Paul ^{[23
]}

Marr, Nico ^{[24
,25
]}

Martins, Reinaldo de Menezes ^{[19
]}

Meyts, Isabelle ^{[26
,27
,28
]}

Zhang, Qian ^{[1
]}

MacDonald, Margaret R. ^{[3
]}

Rice, Charles M. ^{[3
]}

Casanova, Jean-Laurent ^{[1
,29
]}

Jouanguy, Emmanuelle ^{[1
,14
,15
]}

Bossuyt, Xavier ^{[30
,31
]}

机构：

[1] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA

[2] Katholieke Univ Leuven, Lab Inborn Errors Immun, Dept Immunol Microbiol & Transplantat, Leuven, Belgium

[3] Rockefeller Univ, Lab Virol & Infect Dis, 1230 York Ave, New York, NY 10021 USA

[4] Specialized Immunol Lab Dr Shahrooei, Sina Med Complex, Ahvaz, Iran

[5] Katholieke Univ Leuven, Dept Microbiol & Immunol Clin & Diagnost Clin & D, Leuven, Belgium

[6] Fed Univ Rio Janeiro, Rio De Janeiro, Brazil

[7] Bushehr Univ Med Sci, Sch Med, Allergy & Clin Immunol Dept, Bushehr, Iran

[8] Inst Res Fundamental Sci, Sch Math, Tehran, Iran

[9] Zanjan Univ Med Sci, Sch Med, Dept Med Biotechnol, Zanjan, Iran

[10] Necmettin Erbakan Univ, Meram Med Fac, Div Pediat Immunol & Allergy, Dept Pediat, Konya, Turkey

[11] Paris 13 Univ, Jean Verdier Hosp, AP HP, Pediat Dept, Paris, France

[12] Katholieke Univ Leuven, Dept Microbiol & Immunol, Lab Virol & Chemotherapy, Rega Inst Med Res, Leuven, Belgium

[13] Necker Hosp Sick Children, AP HP, Pediat Immunol Hematol Unit, Paris, France

[14] Paris Descartes Univ, Imagine Inst, Paris, France

[15] INSERM, U1163, Lab Human Genet Infect Dis, Necker Branch, Paris, France

[16] Minist Hlth, Inst Oswaldo Cruz, Natl Reference Lab Resp Viruses, Rio De Janeiro, Brazil

[17] Fiocruz MS, Minist Hlth, Bio Manguinhos, Lab Virol Tech, Rio De Janeiro, Brazil

[18] Fiocruz MS, Minist Hlth, Bio Manguinhos, Lab Immunol Tech, Rio De Janeiro, Brazil

[19] Fiocruz MS, Minist Hlth, Bio Manguinhos, Rio De Janeiro, Brazil

[20] Katholieke Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Viral Vector Technol & Gene Therapy, Leuven, Belgium

[21] Leuven Viral Vector Core, Leuven, Belgium

[22] New York Med Coll, Dept Microbiol & Immunol, Valhalla, NY 10595 USA

[23] Hudson Inst Med Res, Clayton, Vic, Australia

[24] Sidra Med, Div Translat Med, Doha, Qatar

[25] Hamad Bin Khalifa Univ, Coll Hlth & Life Sci, Doha, Qatar

[26] Univ Hosp Leuven, Dept Pediat, Leuven, Belgium

[27] Icahn Sch Med Mt Sinai, Precis Immunol Inst, New York, NY 10029 USA

[28] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA

[29] Howard Hughes Med Inst, New York, NY USA

[30] Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Clin & Diagnost Immunol, Leuven, Belgium

[31] Univ Hosp Leuven, Dept Lab Med, Leuven, Belgium

[32] Simon Fraser Univ, Fac Hlth Sci, Burnaby, BC, Canada

来源：

JOURNAL OF EXPERIMENTAL MEDICINE | 2019年 / 216卷 / 09期

基金：

美国国家卫生研究院;

关键词：

INTERFERON-GAMMA; VISCEROTROPIC DISEASE; VIRAL-INFECTIONS; STAT2; DEFICIENCY; RECEPTOR; VIRUS; MUTATION; RESPONSES; ALPHA; IMMUNOGENICITY;

D O I：

10.1084/jem.20182295

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：2057 / 2070

页数：14

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