Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency
Jérémie Rosain,
Ayca Kiykim,
Alexandre Michev
et al.
Abstract:Purpose
Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Twenty-two genes with products involved in the production of, or response to, IFN-γ and variants of which underlie MSMD have been identified. However, pathogenic variants of IFNG encoding a defective IFN-γ have been described in only two siblings, who both underwent hematopoietic stem cell transplantation (HCST).
Methods
We characterized a new… Show more
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