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A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2.
Saettini F, Castelli I, Provenzi M, Fazio G, Quadri M, Cazzaniga G, Sala S, Dell'Acqua F, Sieni E, Coniglio ML, Pezzoli L, Iascone M, Vendemini F, Balduzzi AC, Biondi A, Rizzari C, Bonanomi S. Saettini F, et al. Among authors: coniglio ml. Pediatr Hematol Oncol. 2021 Mar;38(2):174-178. doi: 10.1080/08880018.2020.1793849. Epub 2020 Jul 22. Pediatr Hematol Oncol. 2021. PMID: 32696691 No abstract available.
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
Cetica V, Hackmann Y, Grieve S, Sieni E, Ciambotti B, Coniglio ML, Pende D, Gilmour K, Romagnoli P, Griffiths GM, Aricò M. Cetica V, et al. Among authors: coniglio ml. J Allergy Clin Immunol. 2015 May;135(5):1310-8.e1. doi: 10.1016/j.jaci.2014.08.039. Epub 2014 Oct 11. J Allergy Clin Immunol. 2015. PMID: 25312756 Free PMC article.
Approaching hemophagocytic lymphohistiocytosis.
Chinnici A, Beneforti L, Pegoraro F, Trambusti I, Tondo A, Favre C, Coniglio ML, Sieni E. Chinnici A, et al. Among authors: coniglio ml. Front Immunol. 2023 Jun 22;14:1210041. doi: 10.3389/fimmu.2023.1210041. eCollection 2023. Front Immunol. 2023. PMID: 37426667 Free PMC article. Review.
Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry.
Pegoraro F, Chinnici A, Beneforti L, Tanturli M, Trambusti I, De Fusco C, Micalizzi C, Barat V, Cesaro S, Gaspari S, Dell'Acqua F, Todesco A, Timeus F, Aricò M, Favre C, Tondo A, Coniglio ML, Sieni E; AIEOP Histiocytosis Working Group. Pegoraro F, et al. Among authors: coniglio ml. Haematologica. 2024 Feb 22. doi: 10.3324/haematol.2023.283893. Online ahead of print. Haematologica. 2024. PMID: 38385274 Free article.
19 results