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Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations.
Saettini F, Fazio G, Corti P, Quadri M, Bugarin C, Gaipa G, Penco F, Moratto D, Chiarini M, Baronio M, Gazzurelli L, Imberti L, Paghera S, Giliani S, Cazzaniga G, Plebani A, Badolato R, Lougaris V, Gattorno M, Biondi A. Saettini F, et al. Among authors: chiarini m. Clin Immunol. 2020 Sep;218:108525. doi: 10.1016/j.clim.2020.108525. Epub 2020 Jul 11. Clin Immunol. 2020. PMID: 32659374
Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.
Lougaris V, Baronio M, Castagna A, Tessarin G, Rossi S, Gazzurelli L, Benvenuto A, Moratto D, Chiarini M, Cattalini M, Facchetti M, Palumbo L, Giliani S, Girelli MF, Badolato R, Bondioni MP, Facchetti F, Meini A, Plebani A. Lougaris V, et al. Among authors: chiarini m. Clin Immunol. 2020 Oct;219:108543. doi: 10.1016/j.clim.2020.108543. Epub 2020 Jul 16. Clin Immunol. 2020. PMID: 32681977
Successful hematopoietic stem cell transplantation for complete CTLA-4 haploinsufficiency due to a de novo monoallelic 2q33.2-2q33.3 deletion.
Lougaris V, Malagola M, Baronio M, Morello E, Gazzurelli L, Benvenuto A, Palumbo L, Moratto D, Girelli MF, Chiarini M, Meini A, Turra A, Bernardi S, Polverelli N, Russo D, Plebani A. Lougaris V, et al. Among authors: chiarini m. Clin Immunol. 2020 Nov;220:108589. doi: 10.1016/j.clim.2020.108589. Epub 2020 Sep 12. Clin Immunol. 2020. PMID: 32927079 No abstract available.
Correction to: Immunoglobulin light chain transcript detection by ultrasensitive RNA in situ hybridization for B-cell lymphoma diagnosis.
Lorenzi L, Lonardi S, Bonezzi M, Zini S, Bugatti M, Valzelli A, Melotti F, Facchetti M, Ghini I, Villanacci V, Balzarini P, Pizzi M, Giustini V, Galvagni A, Chiarini M, Dei Tos AP, Vermi W, Casola S, Facchetti F. Lorenzi L, et al. Among authors: chiarini m. Virchows Arch. 2023 Nov 16. doi: 10.1007/s00428-023-03705-4. Online ahead of print. Virchows Arch. 2023. PMID: 37971688 No abstract available.
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Ishiguro A, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: chiarini m. J Clin Immunol. 2023 Nov;43(8):2126. doi: 10.1007/s10875-023-01600-w. J Clin Immunol. 2023. PMID: 37921915 No abstract available.
Immunoglobulin light chain transcript detection by ultrasensitive RNA in situ hybridization for B-cell lymphoma diagnosis.
Lorenzi L, Lonardi S, Bonezzi M, Zini S, Bugatti M, Valzelli A, Melotti F, Facchetti M, Ghini I, Villanacci V, Balzarini P, Pizzi M, Giustini V, Galvagni A, Chiarini M, Dei Tos AP, Vermi W, Casola S, Facchetti F. Lorenzi L, et al. Among authors: chiarini m. Virchows Arch. 2023 Oct 26. doi: 10.1007/s00428-023-03682-8. Online ahead of print. Virchows Arch. 2023. PMID: 37884676
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: chiarini m. J Clin Immunol. 2023 Nov;43(8):2115-2125. doi: 10.1007/s10875-023-01584-7. Epub 2023 Sep 28. J Clin Immunol. 2023. PMID: 37770806
138 results