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Genetic and immunol...
Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19
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- Abolhassani, Hassan (author)
- Karolinska Institutet
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- Delavari, Samaneh (author)
- Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
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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 Solna, Stockholm, Sweden.
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- Shokri, Sima (author)
- Iran Univ Med Sci, Hazrat e Rasool Gen Hosp, Sch Med, Dept Pediat, Tehran, Iran.
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- Bastard, Paul (author)
- Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA.;Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, Inst Natl Sante & Rech Med U1163, Paris, France.;Univ Paris, Imagine Inst, Paris, France.
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- Du, Likun (author)
- Karolinska Inst, Dept Biosci & Nutr, Stockholm, Sweden.
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- Zuo, Fanglei (author)
- Karolinska Institutet
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- Hajebi, Reza (author)
- Univ Tehran Med Sci, Dept Gen Surg, Sch Med, Sina Hosp, Tehran, Iran.
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- Abolnezhadian, Farhad (author)
- Ahvaz Jundishapur Univ Med Sci, Dept Pediat, Abuzar Childrens Hosp, Ahvaz, Iran.
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- Iranparast, Sara (author)
- Ahvaz Jundishapur Univ Med Sci, Fac Med Sci, Dept Immunol, Ahvaz, Iran.
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- Modaresi, Mohammadreza (author)
- Karolinska Institutet
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- Vosughimotlagh, Ahmad (author)
- North Khorasan Univ Med Sci, Dept Pediat, Bojnurd, Iran.
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- Salami, Fereshte (author)
- Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
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- Aranda-Guillen, Maribel (author)
- Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
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- Cobat, Aurelie (author)
- Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, Inst Natl Sante & Rech Med U1163, Paris, France.;Univ Paris, Imagine Inst, Paris, France.
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- Marcotte, Harold (author)
- Karolinska Institutet
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- Zhang, Shen-Ying (author)
- Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA.;Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, Inst Natl Sante & Rech Med U1163, Paris, France.;Univ Paris, Imagine Inst, Paris, France.
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- Zhang, Qian (author)
- Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA.;Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, Inst Natl Sante & Rech Med U1163, Paris, France.
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- Rezaei, Nima (author)
- Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
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- Casanova, Jean-Laurent (author)
- Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA.;Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, Inst Natl Sante & Rech Med U1163, 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 Solna, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden.
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- Hammarström, Lennart (author)
- Karolinska Institutet
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- Pan-Hammarström, Qiang (author)
- Karolinska Institutet
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Karolinska Institutet Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran (creator_code:org_t)
- Elsevier, 2022
- 2022
- English.
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In: Journal of Allergy and Clinical Immunology. - : Elsevier. - 0091-6749 .- 1097-6825. ; 150:5, s. 1059-1073
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Abstract
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- Background: Most severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected individuals are asymptomatic or only exhibit mild disease. In about 10% of cases, the infection leads to hypoxemic pneumonia, although it is much more rare in children. Objective: We evaluated 31 young patients aged 0.5 to 19 years who had preexisting inborn errors of immunity (IEI) but lacked a molecular diagnosis and were later diagnosed with coronavirus disease 2019 (COVID-19) complications. Methods: Genetic evaluation by whole-exome sequencing was performed in all patients. SARS-CoV-2-specific antibodies, autoantibodies against type I IFN (IFN-I), and inflammatory factors in plasma were measured. We also reviewed COVID-19 disease severity/outcome in reported IEI patients. Results: A potential genetic cause of the IEI was identified in 28 patients (90.3%), including mutations that may affect IFN signaling, T- and B-cell function, the inflammasome, and the complement system. From tested patients 65.5% had detectable virus-specific antibodies, and 6.8% had autoantibodies neutralizing IFN-I. Five patients (16.1%) fulfilled the diagnostic criteria of multisystem inflammatory syndrome in children. Eleven patients (35.4%) died of COVID-19 complications. All together, at least 381 IEI children with COVID-19 have been reported in the literature to date. Although many patients with asymptomatic or mild disease may not have been reported, severe presentation of COVID-19 was observed in 23.6% of the published cases, and the mortality rate was 8.7%. Conclusions: Young patients with preexisting IEI may have higher mortality than children without IEI when infected with SARS-CoV-2. Elucidating the genetic basis of IEI patients with severe/critical COVID-19 may help to develop better strategies for prevention and treatment of severe COVID-19 disease and complications in pediatric 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
- Inborn errors of immunity
- primary immunodeficiency
- SARS-CoV-2
- COVID-19
- multisystem inflammatory syndrome in children (MIS-C)
- genetic diagnosis
- immune response
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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Delavari, Samane ...
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Landegren, Nils, ...
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Shokri, Sima
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Bastard, Paul
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Du, Likun
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show more...
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Zuo, Fanglei
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Hajebi, Reza
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Abolnezhadian, F ...
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Iranparast, Sara
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Modaresi, Mohamm ...
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Vosughimotlagh, ...
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Salami, Fereshte
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Aranda-Guillen, ...
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Cobat, Aurelie
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Marcotte, Harold
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Zhang, Shen-Ying
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Zhang, Qian
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Rezaei, Nima
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Casanova, Jean-L ...
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Kämpe, Olle
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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 Aller ...
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Uppsala University
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Karolinska Institutet