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Genetic and immunol...
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Abolhassani, HassanKarolinska Institutet
(författare)
Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19
- Artikel/kapitelEngelska2022
Förlag, utgivningsår, omfång ...
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Elsevier,2022
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electronicrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:uu-493407
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-493407URI
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https://doi.org/10.1016/j.jaci.2022.09.005DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:151436975URI
Kompletterande språkuppgifter
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Språk:engelska
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Sammanfattning på:engelska
Ingår i deldatabas
Klassifikation
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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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.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Delavari, SamanehUniv Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
(författare)
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Landegren, Nils,1986-Karolinska Institutet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.(Swepub:uu)nillan544
(författare)
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Shokri, SimaIran Univ Med Sci, Hazrat e Rasool Gen Hosp, Sch Med, Dept Pediat, Tehran, Iran.
(författare)
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Bastard, PaulRockefeller 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.
(författare)
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Du, LikunKarolinska Inst, Dept Biosci & Nutr, Stockholm, Sweden.
(författare)
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Zuo, FangleiKarolinska Institutet
(författare)
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Hajebi, RezaUniv Tehran Med Sci, Dept Gen Surg, Sch Med, Sina Hosp, Tehran, Iran.
(författare)
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Abolnezhadian, FarhadAhvaz Jundishapur Univ Med Sci, Dept Pediat, Abuzar Childrens Hosp, Ahvaz, Iran.
(författare)
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Iranparast, SaraAhvaz Jundishapur Univ Med Sci, Fac Med Sci, Dept Immunol, Ahvaz, Iran.
(författare)
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Modaresi, MohammadrezaKarolinska Institutet
(författare)
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Vosughimotlagh, AhmadNorth Khorasan Univ Med Sci, Dept Pediat, Bojnurd, Iran.
(författare)
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Salami, FereshteUniv Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
(författare)
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Aranda-Guillen, MaribelKarolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
(författare)
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Cobat, AurelieNecker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, Inst Natl Sante & Rech Med U1163, Paris, France.;Univ Paris, Imagine Inst, Paris, France.
(författare)
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Marcotte, HaroldKarolinska Institutet
(författare)
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Zhang, Shen-YingRockefeller 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.
(författare)
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Zhang, QianRockefeller 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.
(författare)
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Rezaei, NimaUniv Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
(författare)
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Casanova, Jean-LaurentRockefeller 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.
(författare)
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Kämpe, OlleKarolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden.
(författare)
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Hammarström, LennartKarolinska Institutet
(författare)
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Pan-Hammarström, QiangKarolinska Institutet
(författare)
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Karolinska InstitutetUniv Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran.
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Journal of Allergy and Clinical Immunology: Elsevier150:5, s. 1059-10730091-67491097-6825
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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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visa fler...
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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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