Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

The Journal of experimental medicine, Jul 2022 | 219 (8),

DOI: 10.1084/jem.20220131

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Zhang, Qian ; Matuozzo, Daniela ; Le Pen, Jérémie ; Lee, Danyel ; Moens, Leen ; Asano, Takaki ; Bohlen, Jonathan ; Liu, Zhiyong ; Moncada-Velez, Marcela ; Kendir-Demirkol, Yasemin ; Jing, Huie ; Bizien, Lucy ; Marchal, Astrid ; Abolhassani, Hassan ; Delafontaine, Selket ; Bucciol, Giorgia ; COVID Human Genetic Effort, ; Bayhan, Gulsum Ical ; Keles, Sevgi ; Kiykim, Ayca ; Hancerli, Selda ; Haerynck, Filomeen ; Florkin, Benoit ; Hatipoglu, Nevin ; Ozcelik, Tayfun ; Morelle, Guillaume ; Zatz, Mayana ; Ng, Lisa F P ; Lye, David Chien ; Young, Barnaby Edward ; Leo, Yee-Sin ; Dalgard, Clifton L ; Lifton, Richard P ; Renia, Laurent ; Meyts, Isabelle ; Jouanguy, Emmanuelle ; Hammarström, Lennart ; Pan-Hammarström, Qiang ; Boisson, Bertrand ; Bastard, Paul ; Su, Helen C ; Boisson-Dupuis, Stéphanie ; Abel, Laurent ; Rice, Charles M ; Zhang, Shen-Ying ; Cobat, Aurélie ; Casanova, Jean-Laurent

PRODUCTS USED

NGS

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ABSTRACT

Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in unvaccinated children, which is much lower than in unvaccinated adults, remains unexplained. In an international cohort of 112 children (

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PRODUCTS USED

NGS

Genes

Oligo Pools

NGS Target Enrichment Solutions

Variant Libraries

Synthetic Controls

Antibody Discovery