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Inherited IFNAR1 De...
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome
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- Abolhassani, Hassan (author)
- Karolinska Institutet
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- Landegren, Nils, 1986- (author)
- Karolinska Institutet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Karolinska Inst, Ctr Mol Med, Dept Med, Stockholm, Sweden.
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- Bastard, Paul (author)
- Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA.;Necker Hosp Sick Children, Inst Natl Sante & Rech Med U1163, Necker Branch, Lab Human Genet Infect Dis, Paris, France.;Univ Paris, Imagine Inst, Paris, France.
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- Materna, Marie (author)
- Karolinska Institutet
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- Modaresi, Mohammadreza (author)
- Univ Tehran Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Div Pediat Pulm Dis, Tehran, Iran.
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- Du, Likun (author)
- Karolinska Institutet
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- Aranda-Guillen, Maribel (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi
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- Sardh, Fabian (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Karolinska Inst, Ctr Mol Med, Dept Med, Stockholm, Sweden.
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- Zuo, Fanglei (author)
- Karolinska Institutet
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- Zhang, Peng (author)
- Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA.
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- Marcotte, Harold (author)
- Karolinska Institutet
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- Marr, Nico (author)
- Sidra Med, Dept Human Immunol, Doha, Qatar.;Hamad Bin Khalifa Univ, Coll Hlth & Life Sci, Doha, Qatar.
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- Khan, Taushif (author)
- Sidra Med, Dept Human Immunol, Doha, Qatar.
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- Ata, Manar (author)
- Sidra Med, Dept Human Immunol, Doha, Qatar.
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- Al-Ali, Fatima (author)
- Sidra Med, Dept Human Immunol, Doha, Qatar.
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- Pescarmona, Remi (author)
- Univ Lyon, Univ Claude Bernard, Ctr Int Rech Infectiol,ENS Lyon, Ctr Natl Rech Sci,Inserm,U1111,UMR5308,Lyon 1, Lyon, France.;Hosp Civils Lyon, Ctr Hosp Lyon Sud, Lab Immunol, Pierre Benite, France.
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- Belot, Alexandre (author)
- Univ Lyon, Univ Claude Bernard, Ctr Int Rech Infectiol,ENS Lyon, Ctr Natl Rech Sci,Inserm,U1111,UMR5308,Lyon 1, Lyon, France.;Hosp Civils Lyon, Mere Enfant, Hop Femme, Paediat Nephrol Rheumatol Dermatol, Bron, France.;Natl Reference Ctr Rheumat & Autoimmune & Syst Di, Lyon, France.
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- Beziat, Vivien (author)
- Necker Hosp Sick Children, Inst Natl Sante & Rech Med U1163, Necker Branch, Lab Human Genet Infect Dis, Paris, France.;Univ Paris, Imagine Inst, Paris, France.
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- Zhang, Qian (author)
- Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA.;Necker Hosp Sick Children, Inst Natl Sante & Rech Med U1163, Necker Branch, Lab Human Genet Infect Dis, Paris, France.
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- Casanova, Jean-Laurent (author)
- Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA.;Necker Hosp Sick Children, Inst Natl Sante & Rech Med U1163, Necker Branch, Lab Human Genet Infect Dis, Paris, France.;Univ Paris, Imagine Inst, Paris, France.;Howard Hughes Med Inst, New York, NY USA.
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- Kämpe, Olle (author)
- Karolinska Inst, Ctr Mol Med, Dept Med, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden.
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- Zhang, Shen-Ying (author)
- Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA.;Necker Hosp Sick Children, Inst Natl Sante & Rech Med U1163, Necker Branch, Lab Human Genet Infect Dis, Paris, France.;Univ Paris, Imagine Inst, Paris, France.
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- Hammarström, Lennart (author)
- Karolinska Institutet
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- Pan-Hammarström, Qiang (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2022-01-28
- 2022
- English.
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In: Journal of Clinical Immunology. - : Springer Nature. - 0271-9142 .- 1573-2592. ; 42:3, s. 471-483
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Abstract
Subject headings
Close
- Background Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs) underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of multisystem inflammatory syndrome in children (MIS-C) remain elusive. Objectives To detect causal genetic variants in very rare cases with concomitant critical COVID-19 pneumonia and MIS-C. Methods Whole exome sequencing was performed, and the impact of candidate gene variants was investigated. Plasma levels of cytokines, specific antibodies against the virus, and autoantibodies against type I IFNs were also measured. Results We report a 3-year-old child who died on day 56 of SARS-CoV-2 infection with an unusual clinical presentation, combining both critical COVID-19 pneumonia and MIS-C. We identified a large, homozygous loss-of-function deletion in IFNAR1, underlying autosomal recessive IFNAR1 deficiency. Conclusions Our findings confirm that impaired type I IFN immunity can underlie critical COVID-19 pneumonia, while suggesting that it can also unexpectedly underlie concomitant MIS-C. Our report further raises the possibility that inherited or acquired dysregulation of type I IFN immunity might contribute to MIS-C in other patients.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
Keyword
- COVID-19
- critical pneumonia
- multisystem inflammatory syndrome in children (MIS-C)
- inborn errors of immunity (IEI)
- primary immunodeficiency (PID)
- IFNAR1
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Abolhassani, Has ...
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Landegren, Nils, ...
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Bastard, Paul
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Materna, Marie
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Modaresi, Mohamm ...
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Du, Likun
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show more...
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Aranda-Guillen, ...
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Sardh, Fabian
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Zuo, Fanglei
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Zhang, Peng
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Marcotte, Harold
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Marr, Nico
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Khan, Taushif
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Ata, Manar
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Al-Ali, Fatima
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Pescarmona, Remi
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Belot, Alexandre
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Beziat, Vivien
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Zhang, Qian
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Casanova, Jean-L ...
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Kämpe, Olle
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Zhang, Shen-Ying
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Hammarström, Len ...
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Pan-Hammarström, ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
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Journal of Clini ...
- By the university
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Uppsala University
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Karolinska Institutet