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Page 1
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,… See abstract for full author list ➔ Maccari ME, et al. Among authors: marzollo 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 Free article.
Histiocytic sarcoma arising in a child affected by Burkitt lymphoma, with t(8;14)(q24;q32) positivity in both tumors.
d'Amore ESG, Mainardi C, Mussolin L, Carraro E, Alaggio R, Lazzari E, Fusetti S, Ghirotto C, Marzollo A, Biddeci G, Toffolutti T, Massano D, Scarzello G, Zuliani M, Putti MC, Biffi A, Pillon M. d'Amore ESG, et al. Among authors: marzollo a. Pediatr Hematol Oncol. 2021 Feb;38(1):1-7. doi: 10.1080/08880018.2020.1871452. Epub 2021 Feb 23. Pediatr Hematol Oncol. 2021. PMID: 33621154 No abstract available.
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: marzollo a. Front Immunol. 2019 Aug 13;10:1908. doi: 10.3389/fimmu.2019.01908. eCollection 2019. Front Immunol. 2019. PMID: 31456805 Free PMC article.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Pérez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarström L, Dogu F, Haskologlu S, İkincioğulları AI, Köstel Bal S, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Avbelj Stefanija M, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MRJ, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies. Tesch VK, et al. Among authors: marzollo a. J Allergy Clin Immunol. 2020 May;145(5):1452-1463. doi: 10.1016/j.jaci.2019.12.896. Epub 2019 Dec 27. J Allergy Clin Immunol. 2020. PMID: 31887391 Free article.
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
Pajno R, Pacillo L, Recupero S, Cicalese MP, Ferrua F, Barzaghi F, Ricci S, Marzollo A, Pecorelli S, Azzari C, Finocchi A, Cancrini C, Di Matteo G, Russo G, Alfano M, Lesma A, Salonia A, Adams S, Booth C, Aiuti A. Pajno R, et al. Among authors: marzollo a. J Clin Immunol. 2020 May;40(4):610-618. doi: 10.1007/s10875-020-00777-8. Epub 2020 Apr 19. J Clin Immunol. 2020. PMID: 32307643 Free PMC article.
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
Saettini F, Herriot R, Prada E, Nizon M, Zama D, Marzollo A, Romaniouk I, Lougaris V, Cortesi M, Morreale A, Kosaki R, Cardinale F, Ricci S, Domínguez-Garrido E, Montin D, Vincent M, Milani D, Biondi A, Gervasini C, Badolato R. Saettini F, et al. Among authors: marzollo a. J Clin Immunol. 2020 Aug;40(6):851-860. doi: 10.1007/s10875-020-00808-4. Epub 2020 Jun 27. J Clin Immunol. 2020. PMID: 32594341
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: marzollo 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
Clinical outcome, incidence, and SARS-CoV-2 infection-fatality rates in Italian patients with inborn errors of immunity.
Milito C, Lougaris V, Giardino G, Punziano A, Vultaggio A, Carrabba M, Cinetto F, Scarpa R, Delle Piane RM, Baselli L, Ricci S, Rivalta B, Conti F, Marasco C, Marzollo A, Firinu D, Pulvirenti F, Lagnese G, Vivarelli E, Cancrini C, Martire B, Danieli MG, Pession A, Vacca A, Azzari C, Fabio G, Matucci A, Soresina AR, Agostini C, Spadaro G, Badolato R, Cicalese MP, Aiuti A, Plebani A, Pignata C, Quinti I. Milito C, et al. Among authors: marzollo a. J Allergy Clin Immunol Pract. 2021 Jul;9(7):2904-2906.e2. doi: 10.1016/j.jaip.2021.04.017. Epub 2021 Apr 21. J Allergy Clin Immunol Pract. 2021. PMID: 33894392 Free PMC article. No abstract available.
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.
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.
Marzollo A, Conti F, Rossini L, Rivalta B, Leonardi L, Tretti C, Tosato F, Chiriaco M, Ursu GM, Natalucci CT, Martella M, Borghesi A, Mancini C, Ciolfi A, di Matteo G, Tartaglia M, Cancrini C, Dotta A, Biffi A, Finocchi A, Bresolin S. Marzollo A, et al. J Clin Immunol. 2022 Feb;42(2):299-311. doi: 10.1007/s10875-021-01159-4. Epub 2021 Oct 31. J Clin Immunol. 2022. PMID: 34718934 Review.
65 results