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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 ...

  • Elsevier,2022
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-493407
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-493407URI
  • https://doi.org/10.1016/j.jaci.2022.09.005DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:151436975URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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 ...)

  • Delavari, SamanehUniv Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran. (författare)
  • 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)
  • Shokri, SimaIran Univ Med Sci, Hazrat e Rasool Gen Hosp, Sch Med, Dept Pediat, Tehran, Iran. (författare)
  • 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)
  • Du, LikunKarolinska Inst, Dept Biosci & Nutr, Stockholm, Sweden. (författare)
  • Zuo, FangleiKarolinska Institutet (författare)
  • Hajebi, RezaUniv Tehran Med Sci, Dept Gen Surg, Sch Med, Sina Hosp, Tehran, Iran. (författare)
  • Abolnezhadian, FarhadAhvaz Jundishapur Univ Med Sci, Dept Pediat, Abuzar Childrens Hosp, Ahvaz, Iran. (författare)
  • Iranparast, SaraAhvaz Jundishapur Univ Med Sci, Fac Med Sci, Dept Immunol, Ahvaz, Iran. (författare)
  • Modaresi, MohammadrezaKarolinska Institutet (författare)
  • Vosughimotlagh, AhmadNorth Khorasan Univ Med Sci, Dept Pediat, Bojnurd, Iran. (författare)
  • Salami, FereshteUniv Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran. (författare)
  • Aranda-Guillen, MaribelKarolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden. (författare)
  • 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)
  • Marcotte, HaroldKarolinska Institutet (författare)
  • 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)
  • 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)
  • Rezaei, NimaUniv Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran. (författare)
  • 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)
  • Kämpe, OlleKarolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden. (författare)
  • Hammarström, LennartKarolinska Institutet (författare)
  • Pan-Hammarström, QiangKarolinska Institutet (författare)
  • Karolinska InstitutetUniv Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran. (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Journal of Allergy and Clinical Immunology: Elsevier150:5, s. 1059-10730091-67491097-6825

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