Case report : Virus-induced hemophagocytic lymphohistiocytosis in a patient with APECED
© 2023 Boyarchuk, Dyvonyak, Hariyan and Volokha..
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive inborn error of immunity (IEI), which is accompanied by immune dysregulation. Hypoparathyroidism, adrenocortical failure and candidiasis are its typical manifestations. Here we report about recurrent COVID-19 in a 3-year-old boy with APECED, who developed retinopathy with macular atrophy and autoimmune hepatitis after the first episode of SARS-CoV-2 infection. Primary Epstein-Barr virus infection and a new episode of SARS-CoV-2 infection with COVID pneumonia triggered the development of severe hyperinflammation with signs of hemophagocytic lymphohistiocytosis (HLH): progressive cytopenia (thrombocytopenia, anemia, lymphopenia), hypoproteinemia, hypoalbuminemia, high levels of liver enzymes, hyperferritinemia, increased triglycerides levels; and coagulopathy with a low level of fibrinogen. Treatment with corticosteroids and intravenous immunoglobulins did not lead to a significant improvement. The progression of HLH and COVID-pneumonia resulted in a fatal outcome. The rarity and varied presentation of the HLH symptoms led to diagnostic difficulties and diagnosis delay. HLH should be suspected in a patient with immune dysregulation and impaired viral response. Treatment of infection-HLH is a major challenge due to the difficulties in balancing immunosuppression and management of underlying/triggering infection.
Medienart: |
E-Artikel |
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Erscheinungsjahr: |
2023 |
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Erschienen: |
2023 |
Enthalten in: |
Zur Gesamtaufnahme - volume:11 |
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Enthalten in: |
Frontiers in pediatrics - 11(2023) vom: 28., Seite 1086867 |
Sprache: |
Englisch |
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Beteiligte Personen: |
Boyarchuk, Oksana [VerfasserIn] |
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Links: |
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Themen: |
AIRE |
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Anmerkungen: |
Date Revised 07.03.2023 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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doi: |
10.3389/fped.2023.1086867 |
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funding: |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
NLM35379516X |
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520 | |a Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive inborn error of immunity (IEI), which is accompanied by immune dysregulation. Hypoparathyroidism, adrenocortical failure and candidiasis are its typical manifestations. Here we report about recurrent COVID-19 in a 3-year-old boy with APECED, who developed retinopathy with macular atrophy and autoimmune hepatitis after the first episode of SARS-CoV-2 infection. Primary Epstein-Barr virus infection and a new episode of SARS-CoV-2 infection with COVID pneumonia triggered the development of severe hyperinflammation with signs of hemophagocytic lymphohistiocytosis (HLH): progressive cytopenia (thrombocytopenia, anemia, lymphopenia), hypoproteinemia, hypoalbuminemia, high levels of liver enzymes, hyperferritinemia, increased triglycerides levels; and coagulopathy with a low level of fibrinogen. Treatment with corticosteroids and intravenous immunoglobulins did not lead to a significant improvement. The progression of HLH and COVID-pneumonia resulted in a fatal outcome. The rarity and varied presentation of the HLH symptoms led to diagnostic difficulties and diagnosis delay. HLH should be suspected in a patient with immune dysregulation and impaired viral response. Treatment of infection-HLH is a major challenge due to the difficulties in balancing immunosuppression and management of underlying/triggering infection | ||
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