Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.

Autor: 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
Předmět:
Zdroj: Clinical Infectious Diseases; Jan2022, Vol. 74 Issue 1, p136-139, 4p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index