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A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.
Gothe, Florian; Hatton, Catherine F; Truong, Linh; Klimova, Zofia; Kanderova, Veronika; Fejtkova, Martina; Grainger, Angela; Bigley, Venetia; Perthen, Joanna; Mitra, Dipayan; Janda, Ales; Fronkova, Eva; Moravcikova, Dusana; Hambleton, Sophie; Duncan, Christopher J A.
Clin Infect Dis ; 74(1): 136-139, 2022 01 07.
Article in English | MEDLINE | ID: mdl-33252644

ABSTRACT

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.


Subject(s)
Lymphohistiocytosis, Hemophagocytic , Homozygote , Humans , Interferon-alpha/therapeutic use , Lymphohistiocytosis, Hemophagocytic/genetics , Receptor, Interferon alpha-beta/genetics
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