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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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