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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
  1. Marie-Louise Frémond1,2,3,
  2. Isabelle Melki1,2,3,4,
  3. Sven Kracker1,5,
  4. Vincent Bondet6,7,
  5. Darragh Duffy6,7,8,
  6. Gillian I Rice9,
  7. Yanick J Crow1,2,10,
  8. Brigitte Bader-Meunier1,3,11
  1. 1Paris Descartes University, Sorbonne-Paris-Cité, Imagine Institute, Paris, France
  2. 2INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France
  3. 3Paediatric Haematology-Immunologyand Rheumatology Department, Hôpital Universitaire Necker, AP-HP, Paris, France
  4. 4General Paediatrics- Infectious Diseases and Internal Medicine Department, Hôpital Robert Debré, AP-HP, Paris, France
  5. 5INSERM UMR 1163, Laboratory of Human Lymphohematopoiesis, Imagine Institute, Paris, France
  6. 6Immunobiology of Dendritic Cells, Institut Pasteur, Paris, France
  7. 7INSERM U1223, Paris, France
  8. 8Centre for Translational Research, Institut Pasteur, Paris, France
  9. 9Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK
  10. 10Centre for Genomic and Experimental Medicine, MRC – Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
  11. 11INSERM UMR 1163, Laboratory of Immunogenetics of Paediatric Autoimmunity, Paris, France
  1. Correspondence to Dr Brigitte Bader-Meunier; brigitte.bader-meunier{at}

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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.

Patient 1 (P1) was a 12-month-old girl referred because of recurrent attacks of fever from the age of 2 months, with or without documented infections, and failure to thrive. C-reactive protein (CRP) levels were elevated during each episode. Infections consisted of recurrent septicaemias. Aseptic febrile manifestations included vulvitis, parotiditis, adenitis and neutrophilic panniculitis. A chronic microcytic anaemia and low levels of serum IgG, IgA and IgM were noted from 2 months of age. She developed progressive lymphopenia with undetectable levels of B lymphocytes and CD27+ B memory cells by age 15 months, so that intravenous immunoglobulin (IVIG) (400 mg/kg/month) was initiated at this time. At last follow-up, aged 6 years, her height and development were normal and she was no longer subject to …

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