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Items: 1 to 50 of 187

1.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S, Farina L, Buchholzer M, Pannone L, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Chinn IK, Lupski JR, Mace EM, Cancrini C, Aiuti A, Ahmadian MR, Orange JS, De Benedetti F, Tartaglia M.

J Exp Med. 2019 Oct 10. pii: jem.20190147. doi: 10.1084/jem.20190147. [Epub ahead of print]

PMID:
31601675
2.

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.

Front Immunol. 2019 Aug 13;10:1908. doi: 10.3389/fimmu.2019.01908. eCollection 2019.

3.

In vivo dynamics of human hematopoietic stem cells: novel concepts and future directions.

Scala S, Aiuti A.

Blood Adv. 2019 Jun 25;3(12):1916-1924. doi: 10.1182/bloodadvances.2019000039. Review.

4.

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Cifaldi C, Brigida I, Barzaghi F, Zoccolillo M, Ferradini V, Petricone D, Cicalese MP, Lazarevic D, Cittaro D, Omrani M, Attardi E, Conti F, Scarselli A, Chiriaco M, Di Cesare S, Licciardi F, Davide M, Ferrua F, Canessa C, Pignata C, Giliani S, Ferrari S, Fousteri G, Barera G, Merli P, Palma P, Cesaro S, Gattorno M, Trizzino A, Moschese V, Chini L, Villa A, Azzari C, Finocchi A, Locatelli F, Rossi P, Sangiuolo F, Aiuti A, Cancrini C, Di Matteo G.

Front Immunol. 2019 May 31;10:1184. doi: 10.3389/fimmu.2019.01184. eCollection 2019.

5.

Advances in stem cell research and therapeutic development.

De Luca M, Aiuti A, Cossu G, Parmar M, Pellegrini G, Robey PG.

Nat Cell Biol. 2019 Jul;21(7):801-811. doi: 10.1038/s41556-019-0344-z. Epub 2019 Jun 17. Review.

PMID:
31209293
6.

Bone marrow harvesting from paediatric patients undergoing haematopoietic stem cell gene therapy.

Tucci F, Frittoli M, Barzaghi F, Calbi V, Migliavacca M, Ferrua F, Fumagalli F, Lorioli L, Castagnaro L, Facchini M, Fossati C, Zancan S, Massariello P, Manfredini M, Consiglieri G, Canarutto D, Recupero S, Calzatini F, Casiraghi M, Darin S, Antonioli G, Miniero R, Fiori R, Silvani P, Zambelli M, Marktel S, Gattillo S, Milani R, Santoleri L, Ciceri F, Biffi A, Cicalese MP, Bernardo ME, Aiuti A.

Bone Marrow Transplant. 2019 May 31. doi: 10.1038/s41409-019-0573-6. [Epub ahead of print]

PMID:
31150018
7.

Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease.

Squeri G, Passerini L, Ferro F, Laudisa C, Tomasoni D, Deodato F, Donati MA, Gasperini S, Aiuti A, Bernardo ME, Gentner B, Naldini L, Annoni A, Biffi A, Gregori S.

Mol Ther. 2019 Jul 3;27(7):1215-1227. doi: 10.1016/j.ymthe.2019.04.014. Epub 2019 Apr 19.

8.

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Cifaldi C, Brigida I, Barzaghi F, Zoccolillo M, Ferradini V, Petricone D, Cicalese MP, Lazarevic D, Cittaro D, Omrani M, Attardi E, Conti F, Scarselli A, Chiriaco M, Di Cesare S, Licciardi F, Davide M, Ferrua F, Canessa C, Pignata C, Giliani S, Ferrari S, Fousteri G, Barera G, Merli P, Palma P, Cesaro S, Gattorno M, Trizzino A, Moschese V, Chini L, Villa A, Azzari C, Finocchi A, Locatelli F, Rossi P, Sangiuolo F, Aiuti A, Cancrini C, Di Matteo G.

Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Erratum in: Front Immunol. 2019 May 31;10:1184.

9.

Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study.

Ferrua F, Cicalese MP, Galimberti S, Giannelli S, Dionisio F, Barzaghi F, Migliavacca M, Bernardo ME, Calbi V, Assanelli AA, Facchini M, Fossati C, Albertazzi E, Scaramuzza S, Brigida I, Scala S, Basso-Ricci L, Pajno R, Casiraghi M, Canarutto D, Salerio FA, Albert MH, Bartoli A, Wolf HM, Fiori R, Silvani P, Gattillo S, Villa A, Biasco L, Dott C, Culme-Seymour EJ, van Rossem K, Atkinson G, Valsecchi MG, Roncarolo MG, Ciceri F, Naldini L, Aiuti A.

Lancet Haematol. 2019 May;6(5):e239-e253. doi: 10.1016/S2352-3026(19)30021-3. Epub 2019 Apr 10.

10.

Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome.

Sereni L, Castiello MC, Di Silvestre D, Della Valle P, Brombin C, Ferrua F, Cicalese MP, Pozzi L, Migliavacca M, Bernardo ME, Pignata C, Farah R, Notarangelo LD, Marcus N, Cattaneo L, Spinelli M, Giannelli S, Bosticardo M, van Rossem K, D'Angelo A, Aiuti A, Mauri P, Villa A.

J Allergy Clin Immunol. 2019 Sep;144(3):825-838. doi: 10.1016/j.jaci.2019.03.012. Epub 2019 Mar 27.

11.

First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia.

Chiriaco M, Di Matteo G, Conti F, Petricone D, De Luca M, Di Cesare S, Cifaldi C, De Vito R, Zoccolillo M, Serafinelli J, Poerio N, Fraziano M, Brigida I, Cardinale F, Rossi P, Aiuti A, Cancrini C, Finocchi A.

Front Immunol. 2019 Feb 14;10:130. doi: 10.3389/fimmu.2019.00130. eCollection 2019.

12.

Bone marrow stromal cells from β-thalassemia patients have impaired hematopoietic supportive capacity.

Crippa S, Rossella V, Aprile A, Silvestri L, Rivis S, Scaramuzza S, Pirroni S, Avanzini MA, Basso-Ricci L, Hernandez RJ, Zecca M, Marktel S, Ciceri F, Aiuti A, Ferrari G, Bernardo ME.

J Clin Invest. 2019 Feb 25;129(4):1566-1580. doi: 10.1172/JCI123191. eCollection 2019 Feb 25.

13.

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.

J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. No abstract available.

PMID:
30771411
14.

ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation.

Barzaghi F, Minniti F, Mauro M, Bortoli M, Balter R, Bonetti E, Zaccaron A, Vitale V, Omrani M, Zoccolillo M, Brigida I, Cicalese MP, Degano M, Hershfield MS, Aiuti A, Bondarenko AV, Chinello M, Cesaro S.

Front Immunol. 2019 Jan 14;9:2767. doi: 10.3389/fimmu.2018.02767. eCollection 2018.

15.

Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia.

Marktel S, Scaramuzza S, Cicalese MP, Giglio F, Galimberti S, Lidonnici MR, Calbi V, Assanelli A, Bernardo ME, Rossi C, Calabria A, Milani R, Gattillo S, Benedicenti F, Spinozzi G, Aprile A, Bergami A, Casiraghi M, Consiglieri G, Masera N, D'Angelo E, Mirra N, Origa R, Tartaglione I, Perrotta S, Winter R, Coppola M, Viarengo G, Santoleri L, Graziadei G, Gabaldo M, Valsecchi MG, Montini E, Naldini L, Cappellini MD, Ciceri F, Aiuti A, Ferrari G.

Nat Med. 2019 Feb;25(2):234-241. doi: 10.1038/s41591-018-0301-6. Epub 2019 Jan 21.

PMID:
30664781
16.

Gene therapy for mucopolysaccharidoses: in vivo and ex vivo approaches.

Fraldi A, Serafini M, Sorrentino NC, Gentner B, Aiuti A, Bernardo ME.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):130. doi: 10.1186/s13052-018-0565-y. Review.

17.

Dynamics of genetically engineered hematopoietic stem and progenitor cells after autologous transplantation in humans.

Scala S, Basso-Ricci L, Dionisio F, Pellin D, Giannelli S, Salerio FA, Leonardelli L, Cicalese MP, Ferrua F, Aiuti A, Biasco L.

Nat Med. 2018 Nov;24(11):1683-1690. doi: 10.1038/s41591-018-0195-3. Epub 2018 Oct 1.

PMID:
30275570
18.

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A.

Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25.

PMID:
30254128
19.

Lymphocytes are a major source of circulating soluble dipeptidyl peptidase 4.

Casrouge A, Sauer AV, Barreira da Silva R, Tejera-Alhambra M, Sánchez-Ramón S, ICAReB, Cancrini C, Ingersoll MA, Aiuti A, Albert ML.

Clin Exp Immunol. 2018 Nov;194(2):166-179. doi: 10.1111/cei.13163. Epub 2018 Sep 24. Review.

PMID:
30251416
20.

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.

Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, Notarangelo LD, Grunebaum E.

J Allergy Clin Immunol. 2019 Mar;143(3):852-863. doi: 10.1016/j.jaci.2018.08.024. Epub 2018 Sep 5.

PMID:
30194989
21.

Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report.

Cicalese MP, Gerosa J, Baronio M, Montin D, Licciardi F, Soresina A, Dellepiane RM, Miano M, Baselli LA, Volpi S, Dufour C, Plebani A, Aiuti A, Lougaris V, Fousteri G.

Front Immunol. 2018 Aug 6;9:1761. doi: 10.3389/fimmu.2018.01761. eCollection 2018.

22.

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.

Cifaldi C, Serafinelli J, Petricone D, Brigida I, Di Cesare S, Di Matteo G, Chiriaco M, De Vito R, Palumbo G, Rossi P, Palma P, Cancrini C, Aiuti A, Finocchi A.

J Pediatr Hematol Oncol. 2019 May;41(4):e266-e269. doi: 10.1097/MPH.0000000000001256.

PMID:
30044346
23.

JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.

Di Matteo G, Chiriaco M, Scarselli A, Cifaldi C, Livadiotti S, Di Cesare S, Ferradini V, Aiuti A, Rossi P, Finocchi A, Cancrini C.

Mol Genet Genomic Med. 2018 Sep;6(5):713-721. doi: 10.1002/mgg3.391. Epub 2018 Jul 21.

24.

Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis.

Tucci F, Calbi V, Barzaghi F, Migliavacca M, Ferrua F, Bernardo ME, Canarutto D, Consiglieri G, Recupero S, Calzatini F, Gabaldo M, Lucano C, Casiraghi M, Darin S, Dionisio F, Marktel S, Cestone E, Finazzi R, Mieli-Vergani G, Boeri E, Appleby J, Abd Elaziz D, Ciceri F, Aiuti A, Cicalese MP.

Hepatology. 2018 Dec;68(6):2434-2437. doi: 10.1002/hep.30160. Epub 2018 Nov 13. No abstract available.

25.

Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID.

Stirnadel-Farrant H, Kudari M, Garman N, Imrie J, Chopra B, Giannelli S, Gabaldo M, Corti A, Zancan S, Aiuti A, Cicalese MP, Batta R, Appleby J, Davinelli M, Ng P.

Orphanet J Rare Dis. 2018 Apr 6;13(1):49. doi: 10.1186/s13023-018-0791-9.

26.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S.

Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018.

27.

First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature.

Migliavacca M, Assanelli A, Ponzoni M, Pajno R, Barzaghi F, Giglio F, Ferrua F, Frittoli M, Brigida I, Dionisio F, Nicoletti R, Casiraghi M, Roncarolo MG, Doglioni C, Peccatori J, Ciceri F, Cicalese MP, Aiuti A.

Front Immunol. 2018 Feb 2;9:113. doi: 10.3389/fimmu.2018.00113. eCollection 2018. Review.

28.

Neutrophils drive type I interferon production and autoantibodies in patients with Wiskott-Aldrich syndrome.

Cervantes-Luevano KE, Caronni N, Castiello MC, Fontana E, Piperno GM, Naseem A, Uva P, Bosticardo M, Marcovecchio GE, Notarangelo LD, Cicalese MP, Aiuti A, Villa A, Benvenuti F.

J Allergy Clin Immunol. 2018 Nov;142(5):1605-1617.e4. doi: 10.1016/j.jaci.2017.11.063. Epub 2018 Feb 13.

29.

Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety.

Cicalese MP, Ferrua F, Castagnaro L, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Roncarolo MG, Aiuti A.

Mol Ther. 2018 Mar 7;26(3):917-931. doi: 10.1016/j.ymthe.2017.12.022. Epub 2018 Jan 4.

30.

Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation.

Sereni L, Castiello MC, Marangoni F, Anselmo A, di Silvestre D, Motta S, Draghici E, Mantero S, Thrasher AJ, Giliani S, Aiuti A, Mauri P, Notarangelo LD, Bosticardo M, Villa A.

J Allergy Clin Immunol. 2018 Oct;142(4):1272-1284. doi: 10.1016/j.jaci.2017.12.1000. Epub 2018 Feb 6.

31.

Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent.

Chiriaco M, Casciano F, Di Matteo G, Gentner B, Claps A, Di Cesare S, Cotugno N, D'Argenio P, Rossi P, Aiuti A, Finocchi A.

Clin Immunol. 2018 Aug;193:52-59. doi: 10.1016/j.clim.2018.01.010. Epub 2018 Feb 3.

PMID:
29410324
32.

Use of Defibrotide to help prevent post-transplant endothelial injury in a genetically predisposed infant with metachromatic leukodystrophy undergoing hematopoietic stem cell gene therapy.

Calbi V, Fumagalli F, Consiglieri G, Penati R, Acquati S, Redaelli D, Attanasio V, Marcella F, Cicalese MP, Migliavacca M, Barzaghi F, Ferrua F, Assanelli A, Silvani P, Zoccolillo M, Chidini G, Chiesa R, Arora R, Ciotti F, Sarzana M, Antonioli G, Baldoli C, Morena F, Martino S, Ardissino GL, Sora MGN, Naldini L, Ciceri F, Aiuti A, Bernardo ME.

Bone Marrow Transplant. 2018 Jul;53(7):913-917. doi: 10.1038/s41409-017-0085-1. Epub 2018 Jan 29. No abstract available.

33.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT).

J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.

34.

Severe Toxoplasma gondii infection in a member of a NFKB2-deficient family with T and B cell dysfunction.

Maccari ME, Scarselli A, Di Cesare S, Floris M, Angius A, Deodati A, Chiriaco M, Cambiaso P, Corrente S, Colafati GS, Utz PJ, Angelini F, Fierabracci A, Aiuti A, Carsetti R, Rosenberg JM, Cappa M, Rossi P, Bacchetta R, Cancrini C.

Clin Immunol. 2017 Oct;183:273-277. doi: 10.1016/j.clim.2017.09.011. Epub 2017 Sep 14. No abstract available.

PMID:
28919517
35.

Twenty-Five Years of Gene Therapy for ADA-SCID: From Bubble Babies to an Approved Drug.

Ferrua F, Aiuti A.

Hum Gene Ther. 2017 Nov;28(11):972-981. doi: 10.1089/hum.2017.175. Review.

PMID:
28847159
36.

A map of human circular RNAs in clinically relevant tissues.

Maass PG, Glažar P, Memczak S, Dittmar G, Hollfinger I, Schreyer L, Sauer AV, Toka O, Aiuti A, Luft FC, Rajewsky N.

J Mol Med (Berl). 2017 Nov;95(11):1179-1189. doi: 10.1007/s00109-017-1582-9. Epub 2017 Aug 25.

37.

Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I.

Azario I, Pievani A, Del Priore F, Antolini L, Santi L, Corsi A, Cardinale L, Sawamoto K, Kubaski F, Gentner B, Bernardo ME, Valsecchi MG, Riminucci M, Tomatsu S, Aiuti A, Biondi A, Serafini M.

Sci Rep. 2017 Aug 25;7(1):9473. doi: 10.1038/s41598-017-09958-9.

38.

Biological and functional characterization of bone marrow-derived mesenchymal stromal cells from patients affected by primary immunodeficiency.

Starc N, Ingo D, Conforti A, Rossella V, Tomao L, Pitisci A, De Mattia F, Brigida I, Algeri M, Montanari M, Palumbo G, Merli P, Rossi P, Aiuti A, Locatelli F, Bernardo ME.

Sci Rep. 2017 Aug 15;7(1):8153. doi: 10.1038/s41598-017-08550-5.

39.

Long-Term Outcome of Adenosine Deaminase-Deficient Patients-a Single-Center Experience.

Scott O, Kim VH, Reid B, Pham-Huy A, Atkinson AR, Aiuti A, Grunebaum E.

J Clin Immunol. 2017 Aug;37(6):582-591. doi: 10.1007/s10875-017-0421-7. Epub 2017 Jul 26.

PMID:
28748310
40.

Multiparametric Whole Blood Dissection: A one-shot comprehensive picture of the human hematopoietic system.

Basso-Ricci L, Scala S, Milani R, Migliavacca M, Rovelli A, Bernardo ME, Ciceri F, Aiuti A, Biasco L.

Cytometry A. 2017 Oct;91(10):952-965. doi: 10.1002/cyto.a.23148. Epub 2017 Jun 13.

41.

Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I.

Penati R, Fumagalli F, Calbi V, Bernardo ME, Aiuti A.

J Inherit Metab Dis. 2017 Jul;40(4):543-554. doi: 10.1007/s10545-017-0052-4. Epub 2017 May 30. Review.

42.

Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: paving the road for the next generation of advanced therapy medicinal products.

Aiuti A, Roncarolo MG, Naldini L.

EMBO Mol Med. 2017 Jun;9(6):737-740. doi: 10.15252/emmm.201707573. No abstract available.

43.

Efficient Ex Vivo Engineering and Expansion of Highly Purified Human Hematopoietic Stem and Progenitor Cell Populations for Gene Therapy.

Zonari E, Desantis G, Petrillo C, Boccalatte FE, Lidonnici MR, Kajaste-Rudnitski A, Aiuti A, Ferrari G, Naldini L, Gentner B.

Stem Cell Reports. 2017 Apr 11;8(4):977-990. doi: 10.1016/j.stemcr.2017.02.010. Epub 2017 Mar 16.

44.

Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice.

Carriglio N, Klapwijk J, Hernandez RJ, Vezzoli M, Chanut F, Lowe R, Draghici E, Nord M, Albertini P, Cristofori P, Richards J, Staton H, Appleby J, Aiuti A, Sauer AV.

Hum Gene Ther Clin Dev. 2017 Mar;28(1):17-27. doi: 10.1089/humc.2016.191. Erratum in: Hum Gene Ther Clin Dev. 2017 Jun;28(2):116.

PMID:
28319446
45.

Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.

Sauer AV, Hernandez RJ, Fumagalli F, Bianchi V, Poliani PL, Dallatomasina C, Riboni E, Politi LS, Tabucchi A, Carlucci F, Casiraghi M, Carriglio N, Cominelli M, Forcellini CA, Barzaghi F, Ferrua F, Minicucci F, Medaglini S, Leocani L, la Marca G, Notarangelo LD, Azzari C, Comi G, Baldoli C, Canale S, Sessa M, D'Adamo P, Aiuti A.

Sci Rep. 2017 Jan 11;7:40136. doi: 10.1038/srep40136.

46.

Bone marrow-derived CD34- fraction: A rich source of mesenchymal stromal cells for clinical application.

Ingo DM, Redaelli D, Rossella V, Perini O, Santoleri L, Ciceri F, Aiuti A, Bernardo ME.

Cytotherapy. 2016 Dec;18(12):1560-1563. doi: 10.1016/j.jcyt.2016.08.011. Epub 2016 Oct 11. No abstract available.

PMID:
27742233
47.

AQP8 transports NOX2-generated H2O2 across the plasma membrane to promote signaling in B cells.

Bertolotti M, Farinelli G, Galli M, Aiuti A, Sitia R.

J Leukoc Biol. 2016 Nov;100(5):1071-1079. Epub 2016 Jun 2.

PMID:
27256569
48.

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

Speckmann C, Doerken S, Aiuti A, Albert MH, Al-Herz W, Allende LM, Scarselli A, Avcin T, Perez-Becker R, Cancrini C, Cant A, Di Cesare S, Finocchi A, Fischer A, Gaspar HB, Ghosh S, Gennery A, Gilmour K, González-Granado LI, Martinez-Gallo M, Hambleton S, Hauck F, Hoenig M, Moshous D, Neven B, Niehues T, Notarangelo L, Picard C, Rieber N, Schulz A, Schwarz K, Seidel MG, Soler-Palacin P, Stepensky P, Strahm B, Vraetz T, Warnatz K, Winterhalter C, Worth A, Fuchs S, Uhlmann A, Ehl S; P-CID study of the Inborn Errors Working Party of the EBMT.

J Allergy Clin Immunol. 2017 Apr;139(4):1302-1310.e4. doi: 10.1016/j.jaci.2016.07.040. Epub 2016 Sep 19.

49.

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.

Brigida I, Chiriaco M, Di Cesare S, Cittaro D, Di Matteo G, Giannelli S, Lazarevic D, Zoccolillo M, Stupka E, Jenkner A, Francalanci P, Livadiotti S, Morawski A, Ravell J, Lenardo M, Cancrini C, Aiuti A, Finocchi A.

J Clin Immunol. 2017 Jan;37(1):32-35. doi: 10.1007/s10875-016-0341-y. Epub 2016 Oct 21. No abstract available.

50.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR.

J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. Erratum in: J Allergy Clin Immunol. 2018 Feb;141(2):832.

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