We present a case of complete deficiency of the interferon alpha/beta receptor alpha chain (IFNAR1) in a child with fatal systemic hyperinflammation, apparently provoked by live-attenuated viral vaccination. Such pathologic hyperinflammation, fulfilling criteria for hemophagocytic lymphohistiocytosis, is an emerging phenotype accompanying inborn errors of type I interferon immunity.

• MeSH
• homozygot MeSH
• interferon alfa terapeutické užití   MeSH
• lidé MeSH
• lymfohistiocytóza hemofagocytární * genetika   MeSH
• receptor interferonu alfa-beta genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• kazuistiky MeSH
• práce podpořená grantem MeSH
• úvodníky MeSH