Sökning: id:"swepub:oai:DiVA.org:uu-493407" >
Genetic and immunol...
Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19
-
- Abolhassani, Hassan (författare)
- Karolinska Institutet
-
- Delavari, Samaneh (författare)
- Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
-
- Landegren, Nils, 1986- (författare)
- Karolinska Institutet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
-
visa fler...
-
- Shokri, Sima (författare)
- Iran Univ Med Sci, Hazrat e Rasool Gen Hosp, Sch Med, Dept Pediat, Tehran, Iran.
-
- Bastard, Paul (författare)
- 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.
-
- Du, Likun (författare)
- Karolinska Institutet
-
- Zuo, Fanglei (författare)
- Karolinska Institutet
-
- Hajebi, Reza (författare)
- Univ Tehran Med Sci, Dept Gen Surg, Sch Med, Sina Hosp, Tehran, Iran.
-
- Abolnezhadian, Farhad (författare)
- Ahvaz Jundishapur Univ Med Sci, Dept Pediat, Abuzar Childrens Hosp, Ahvaz, Iran.
-
- Iranparast, Sara (författare)
- Ahvaz Jundishapur Univ Med Sci, Fac Med Sci, Dept Immunol, Ahvaz, Iran.
-
- Modaresi, Mohammadreza (författare)
- Karolinska Institutet
-
- Vosughimotlagh, Ahmad (författare)
- North Khorasan Univ Med Sci, Dept Pediat, Bojnurd, Iran.
-
- Salami, Fereshte (författare)
- Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
-
- Aranda-Guillen, Maribel (författare)
- Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
-
- Cobat, Aurelie (författare)
- 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.
-
- Marcotte, Harold (författare)
- Karolinska Institutet
-
- Zhang, Shen-Ying (författare)
- 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.
-
- Zhang, Qian (författare)
- 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.
-
- Rezaei, Nima (författare)
- Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
-
- Casanova, Jean-Laurent (författare)
- 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.
-
- Kämpe, Olle (författare)
- Karolinska Institutet
-
- Hammarström, Lennart (författare)
- Karolinska Institutet
-
- Pan-Hammarström, Qiang (författare)
- Karolinska Institutet
-
visa färre...
-
Karolinska Institutet Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran (creator_code:org_t)
- Elsevier, 2022
- 2022
- Engelska.
-
Ingår i: Journal of Allergy and Clinical Immunology. - : Elsevier. - 0091-6749 .- 1097-6825. ; 150:5, s. 1059-1073
- Relaterad länk:
-
https://doi.org/10.1...
-
visa fler...
-
https://uu.diva-port... (primary) (Raw object)
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
http://kipublication...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- 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)
Nyckelord
- Inborn errors of immunity
- primary immunodeficiency
- SARS-CoV-2
- COVID-19
- multisystem inflammatory syndrome in children (MIS-C)
- genetic diagnosis
- immune response
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Abolhassani, Has ...
-
Delavari, Samane ...
-
Landegren, Nils, ...
-
Shokri, Sima
-
Bastard, Paul
-
Du, Likun
-
visa fler...
-
Zuo, Fanglei
-
Hajebi, Reza
-
Abolnezhadian, F ...
-
Iranparast, Sara
-
Modaresi, Mohamm ...
-
Vosughimotlagh, ...
-
Salami, Fereshte
-
Aranda-Guillen, ...
-
Cobat, Aurelie
-
Marcotte, Harold
-
Zhang, Shen-Ying
-
Zhang, Qian
-
Rezaei, Nima
-
Casanova, Jean-L ...
-
Kämpe, Olle
-
Hammarström, Len ...
-
Pan-Hammarström, ...
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Medicinska och f ...
-
och Immunologi inom ...
- Artiklar i publikationen
-
Journal of Aller ...
- Av lärosätet
-
Uppsala universitet
-
Karolinska Institutet