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Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher… See abstract for full author list ➔ Maccari ME, et al. Among authors: tommasini a. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity.
Goudy K, Aydin D, Barzaghi F, Gambineri E, Vignoli M, Ciullini Mannurita S, Doglioni C, Ponzoni M, Cicalese MP, Assanelli A, Tommasini A, Brigida I, Dellepiane RM, Martino S, Olek S, Aiuti A, Ciceri F, Roncarolo MG, Bacchetta R. Goudy K, et al. Among authors: tommasini a. Clin Immunol. 2013 Mar;146(3):248-61. doi: 10.1016/j.clim.2013.01.004. Epub 2013 Jan 24. Clin Immunol. 2013. PMID: 23416241 Free PMC article.
Clinical features and follow-up in patients with 22q11.2 deletion syndrome.
Cancrini C, Puliafito P, Digilio MC, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EM, Cardinale F, Finocchi A, Romiti ML, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MC, Marino B, Ugazio AG, Plebani A, Rossi P; Italian Network for Primary Immunodeficiencies. Cancrini C, et al. J Pediatr. 2014 Jun;164(6):1475-80.e2. doi: 10.1016/j.jpeds.2014.01.056. Epub 2014 Mar 20. J Pediatr. 2014. PMID: 24657119
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.
Lougaris V, Faletra F, Lanzi G, Vozzi D, Marcuzzi A, Valencic E, Piscianz E, Bianco A, Girardelli M, Baronio M, Loganes C, Fasth A, Salvini F, Trizzino A, Moratto D, Facchetti F, Giliani S, Plebani A, Tommasini A. Lougaris V, et al. Among authors: tommasini a. Clin Immunol. 2015 Jul;159(1):33-6. doi: 10.1016/j.clim.2015.04.014. Epub 2015 May 1. Clin Immunol. 2015. PMID: 25939554 No abstract available.
Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiency.
Valencic E, Grasso AG, Conversano E, Lucafò M, Piscianz E, Gregori M, Conti F, Cancrini C, Tommasini A. Valencic E, et al. Among authors: tommasini a. J Allergy Clin Immunol Pract. 2018 Nov-Dec;6(6):2165-2167. doi: 10.1016/j.jaip.2018.02.029. Epub 2018 Mar 3. J Allergy Clin Immunol Pract. 2018. PMID: 29510232 Free article. No abstract available.
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.
De Rose DU, Giliani S, Notarangelo LD, Lougaris V, Lanfranchi A, Moratto D, Martire B, Specchia F, Tommasini A, Plebani A, Badolato R. De Rose DU, et al. Among authors: tommasini a. Clin Immunol. 2018 Jun;191:75-80. doi: 10.1016/j.clim.2018.03.005. Epub 2018 Mar 13. Clin Immunol. 2018. PMID: 29548898 Free article.
Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.
Cirillo E, Cancrini C, Azzari C, Martino S, Martire B, Pession A, Tommasini A, Naviglio S, Finocchi A, Consolini R, Pierani P, D'Alba I, Putti MC, Marzollo A, Giardino G, Prencipe R, Esposito F, Grasso F, Scarselli A, Di Matteo G, Attardi E, Ricci S, Montin D, Specchia F, Barzaghi F, Cicalese MP, Quaremba G, Lougaris V, Giliani S, Locatelli F, Rossi P, Aiuti A, Badolato R, Plebani A, Pignata C. Cirillo E, et al. Among authors: tommasini a. Front Immunol. 2019 Aug 13;10:1908. doi: 10.3389/fimmu.2019.01908. eCollection 2019. Front Immunol. 2019. PMID: 31456805 Free PMC article.
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019).
Lougaris V, Pession A, Baronio M, Soresina A, Rondelli R, Gazzurelli L, Benvenuto A, Martino S, Gattorno M, Biondi A, Zecca M, Marinoni M, Fabio G, Aiuti A, Marseglia G, Putti MC, Agostini C, Lunardi C, Tommasini A, Bertolini P, Gambineri E, Consolini R, Matucci A, Azzari C, Danieli MG, Paganelli R, Duse M, Cancrini C, Moschese V, Chessa L, Spadaro G, Civino A, Vacca A, Cardinale F, Martire B, Carpino L, Trizzino A, Russo G, Cossu F, Badolato R, Pietrogrande MC, Quinti I, Rossi P, Ugazio A, Pignata C, Plebani A. Lougaris V, et al. Among authors: tommasini a. J Clin Immunol. 2020 Oct;40(7):1026-1037. doi: 10.1007/s10875-020-00844-0. Epub 2020 Aug 15. J Clin Immunol. 2020. PMID: 32803625 Free PMC article.
Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity.
Cirillo E, Giardino G, Ricci S, Moschese V, Lougaris V, Conti F, Azzari C, Barzaghi F, Canessa C, Martire B, Badolato R, Dotta L, Soresina A, Cancrini C, Finocchi A, Montin D, Romano R, Amodio D, Ferrua F, Tommasini A, Baselli LA, Dellepiane RM, Polizzi A, Chessa L, Marzollo A, Cicalese MP, Putti MC, Pession A, Aiuti A, Locatelli F, Plebani A, Pignata C. Cirillo E, et al. Among authors: tommasini a. J Allergy Clin Immunol. 2020 Nov;146(5):967-983. doi: 10.1016/j.jaci.2020.08.010. Epub 2020 Aug 19. J Allergy Clin Immunol. 2020. PMID: 32827505
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
240 results