Comment on: ‘Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors’ by Giannelou et al : mutations in TRNT1 result in a constitutive activation of type I interferon signalling

Marie-Louise Frémond (1) , Isabelle Melki (2, 1) , Sven Kracker (1) , Vincent Bondet (3) , Darragh Duffy (3) , Gillian Rice (4, 5) , Yanick Crow (1, 6) , Brigitte Bader-Meunier (7, 1)

1 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
2 AP-HP Hôpital universitaire Robert-Debré [Paris]
3 Immunobiologie des Cellules dendritiques
4 University of Manchester [Manchester]
5 MAHSC - Manchester Academic Health Science Centre
6 University of Edinburgh
7 Service d'immuno-hématologie pédiatrique [CHU Necker]

We read with great interest the paper of Giannelou et al1 reporting, for the first time, the efficacy of tumour necrosis factor (TNF) inhibitors in sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD). These authors also demonstrated high levels of interleukin (IL)-6, IL-12p40, IL-18, interferon (IFN)-γ and IFN-induced chemokines (IP-10 and MIG) in two patients. Herein, we wish to highlight that an activation of the type I IFN pathway may also be observed in SIFD [...]

Keywords: disease activity; rehabilitation; treatment

Domains: Life Sciences [q-bio]; Immunology

Marie-Louise Frémond, Isabelle Melki, Sven Kracker, Vincent Bondet, Darragh Duffy, et al.. Comment on: ‘Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors’ by Giannelou et al : mutations in TRNT1 result in a constitutive activation of type I interferon signalling. Annals of the Rheumatic Diseases, 2018, ⟨10.1136/annrheumdis-2018-213745⟩. ⟨pasteur-01819255⟩