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Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ. David C, et al. Among authors: volpi s. J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6. J Clin Immunol. 2024. PMID: 38324161 Free PMC article.
Type I interferonopathies in pediatric rheumatology.
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M. Volpi S, et al. Pediatr Rheumatol Online J. 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. Pediatr Rheumatol Online J. 2016. PMID: 27260006 Free PMC article. Review.
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.
Melki I, Rose Y, Uggenti C, Van Eyck L, Frémond ML, Kitabayashi N, Rice GI, Jenkinson EM, Boulai A, Jeremiah N, Gattorno M, Volpi S, Sacco O, Terheggen-Lagro SWJ, Tiddens HAWM, Meyts I, Morren MA, De Haes P, Wouters C, Legius E, Corveleyn A, Rieux-Laucat F, Bodemer C, Callebaut I, Rodero MP, Crow YJ. Melki I, et al. Among authors: volpi s. J Allergy Clin Immunol. 2017 Aug;140(2):543-552.e5. doi: 10.1016/j.jaci.2016.10.031. Epub 2017 Jan 10. J Allergy Clin Immunol. 2017. PMID: 28087229
Type I interferon pathway activation in COPA syndrome.
Volpi S, Tsui J, Mariani M, Pastorino C, Caorsi R, Sacco O, Ravelli A, Shum AK, Gattorno M, Picco P. Volpi S, et al. Clin Immunol. 2018 Feb;187:33-36. doi: 10.1016/j.clim.2017.10.001. Epub 2017 Oct 10. Clin Immunol. 2018. PMID: 29030294
Type I interferon-mediated autoinflammation due to DNase II deficiency.
Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ. Rodero MP, et al. Among authors: volpi s. Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3. Nat Commun. 2017. PMID: 29259162 Free PMC article.
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.
Caorsi R, Rusmini M, Volpi S, Chiesa S, Pastorino C, Sementa AR, Uva P, Grossi A, Lanino E, Faraci M, Minoia F, Signa S, Picco P, Martini A, Ceccherini I, Gattorno M. Caorsi R, et al. Among authors: volpi s. Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017. Front Immunol. 2018. PMID: 29434583 Free PMC article.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.
Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome.
Montin D, Marolda A, Licciardi F, Robasto F, Di Cesare S, Ricotti E, Ferro F, Scaioli G, Giancotta C, Amodio D, Conti F, Giardino G, Leonardi L, Ricci S, Volpi S, Baselli LA, Azzari C, Bossi G, Consolini R, Dellepiane RM, Duse M, Gattorno M, Martire B, Putti MC, Soresina A, Plebani A, Ramenghi U, Martino S, Pignata C, Cancrini C. Montin D, et al. Among authors: volpi s. J Allergy Clin Immunol Pract. 2019 Sep-Oct;7(7):2369-2376. doi: 10.1016/j.jaip.2019.03.014. Epub 2019 Mar 26. J Allergy Clin Immunol Pract. 2019. PMID: 30922987
274 results