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Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

Lorenzo Lodi 1, 2 Isabelle Melki 1, 3, 4 Vincent Bondet 5 Luis Seabra 1 Gillian I. Rice 6 Edwin Carter 7 Alice Lepelley 1 Maria José Martin-Niclós 1 Buthaina Al Adba 8 Brigitte Bader-Meunier 4 Magalie Barth 9 Thomas Blauwblomme 10 Christine Bodemer 11 Odile Boespflug-Tanguy 3 Russel C. Dale 12 Isabelle Desguerre 13 Camille Ducrocq 3 Fabienne Dulieu 14 Cécile Dumaine 3 Pierre Ellul 15, 16 Alice Hadchouel 17 Véronique Hentgen 18 Miguel Hié 19 Marie Hully 13 Eric Jeziorski 20 Romain Lévy 4 Fanny Mochel 21, 22 Simona Orcesi 23, 24 Sandrine Passemard 3 Marie Pouletty 3 Pierre Quartier 4 Florence Renaldo 25 Rainer Seidl 26 Jay Shetty 27 Bénédicte Neven 4 Stéphane Blanche 4 Darragh Duffy 5 Yanick J. Crow 1, 7, * Marie-Louise Frémond 1, 4, * 
* Corresponding author
1 Equipe Inserm U1163 - Laboratory of neurogenetics and neuroinflammation
Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
Abstract : Whilst upregulation of type I interferon (IFN) signaling is common across the type I interferonopathies (T1Is), central nervous system (CNS) involvement varies between these disorders, the basis of which remains unclear. We collected cerebrospinal fluid (CSF) and serum from patients with Aicardi-Goutières syndrome (AGS), STING-associated vasculopathy with onset in infancy (SAVI), presumed monogenic T1Is (pT1I), childhood systemic lupus erythematosus with neuropsychiatric features (nSLE), non-IFN-related autoinflammation (AI) and non-inflammatory hydrocephalus (as controls). We measured IFN-alpha protein using digital ELISA. Eighty-two and 63 measurements were recorded respectively in CSF and serum of 42 patients and 6 controls. In an intergroup comparison (taking one sample per individual), median CSF IFN-alpha levels were elevated in AGS, SAVI, pT1I, and nSLE compared to AI and controls, with levels highest in AGS compared to all other groups. In AGS, CSF IFN-alpha concentrations were higher than in paired serum samples. In contrast, serum IFN was consistently higher compared to CSF levels in SAVI, pT1I, and nSLE. Whilst IFN-alpha is present in the CSF and serum of all IFN-related diseases studied here, our data suggest the primary sites of IFN production in the monogenic T1I AGS and SAVI are, respectively, the CNS and the periphery. These results inform the diagnosis of, and future therapeutic approaches to, monogenic and multifactorial T1Is.
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Submitted on : Wednesday, May 26, 2021 - 10:57:22 AM
Last modification on : Monday, November 28, 2022 - 8:22:06 PM

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Lorenzo Lodi, Isabelle Melki, Vincent Bondet, Luis Seabra, Gillian I. Rice, et al.. Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies. Journal of Clinical Immunology, 2021, 41 (3), pp.603-609. ⟨10.1007/s10875-020-00952-x⟩. ⟨pasteur-03236262⟩



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