Free Full-Text Articles

The article links below provide free access to the full-text versions of the most important journal articles of interest in the field of ADA-SCID, as selected by our Editorial Board.

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

Nicola Carriglio, Jan Klapwijk, Raisa Jofra Hernandez, Michela Vezzoli, Franck Chanut, Rhiannon Lowe, Draghici Elena, Melanie Nord, Paola Albertini, Patrizia Cristofori, Jane Richards, Hazel Staton, Jonathan Appleby, Alessandro Aiuti, Aisha V Sauer

Human Gene Ther Clin Dev. 2017; 28:17-27


Cytoreductive conditioning intensity predicts clonal diversity in ADA-SCID retroviral gene therapy patients 

Aaron R. Cooper, Georgia R. Lill, Kit Shaw, Denise A. Carbonaro-Sarracino, Alejandra Davila, Robert Sokolic, Fabio Candotti, Matteo Pellegrini, and Donald B. Kohn

Blood. 2017; 129:2624-35.


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

Aisha V Sauer, Raisa Jofra Hernandez, Francesca Fumagalli, Veronica Bianchi, Pietro L Poliani, Chiara Dallatomasina, Elisa Riboni, Letterio S Politi, Antonella Tabucchi, Filippo Carlucci, Miriam Casiraghi, Nicola Carriglio, Manuela Cominelli, Carlo Alberto Forcellini, Federica Barzaghi, Francesca Ferrua, Fabio Minicucci, Stefania Medaglini, Letizia Leocani, Giancarlo la Marca, Lucia D Notarangelo, Chiara Azzari, Giancarlo Comi, Cristina Baldoli, Sabrina Canale, Maria Sessa, Patrizia D’Adamo, Alessandro Aiuti.

Scientific Reports. 2017; 7:40136.


Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A.

Blood. 2016; 128:45-54.


A 24 year enzyme replacement therapy in an adenosine-deaminase-deficient patient.

Tartibi HM, Hershfield MS, Bahna SL.

Pediatrics. 2016; 137:e20152169 (DOI: 10.1542/peds.2015-2169 )


Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency.

Komarow HD, Sokolic R, Hershfield MS, Kohn DB, Young M, Metcalfe DD, Candotti F.

Orphanet J Rare Dis. 2015; 10:159.


Diagnosis, treatment and long-term follow up of patients with ADA deficiency: a single-center experience.

Baffelli R, Notarangelo LD, Imberti L, Hershfield MS, Serana F, Santisteban I, Bolda F, Porta F, Lanfranchi A.

J Clin Immunol. 2015; 35:624-37.


Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: segregation of genotypes with specific ethnicities.

Adams SP, Wilson M, Harb E, Fairbanks L, Xu-Bayford J, Brown L, Kearney L, Madkaikar M, Bobby Gaspar H.

Clin Immunol. 2015; 161:174-9.


Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.

Nikolajeva O, Worth A, Hague R, Martinez-Alier N, Smart J, Adams S, Davies EG, Gaspar HB.

J Clin Immunol. 2015; 35:366-72.


Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning.

Otsu M, Yamada M, Nakajima S, Kida M, Maeyama Y, Hatano N, Toita N, Takezaki S, Okura Y, Kobayashi R, Matsumoto Y, Tatsuzawa O, Tsuchida F, Kato S, Kitagawa M, Mineno J, Hershfield MS, Bali P, Candotti F, Onodera M, Kawamura N, Sakiyama Y, Ariga T.

J Clin Immunol. 2015; 35:384-98.


The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

la Marca G, Giocaliere E, Malvagia S, Funghini S, Ombrone D, Della Bona ML, Canessa C, Lippi F, Romano F, Guerrini R, Resti M, Azzari C.

J Pharm Biomed Anal. 2014; 88:201-6.


Preclinical demonstration of lentiviral vector-mediated correction of immunological and metabolic abnormalities in models of adenosine deaminase deficiency.

Carbonaro DA, Zhang L, Jin X, Montiel-Equihua C, Geiger S, Carmo M, Cooper A, Fairbanks L, Kaufman ML, Sebire NJ, Hollis RP, Blundell MP, Senadheera S, Fu PY, Sahaghian A, Chan RY, Wang X, Cornetta K, Thrasher AJ, Kohn DB, Gaspar HB.

Mol Ther. 2014; 22:607-22.


Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C.

J Allergy Clin Immunol. 2013; 131:1604-10.


Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.

Geelen J, Pfundt R, Meijer J, Verheijen FW, van Kuilenburg AB, Warris A, Marcelis C.

J Allergy Clin Immunol. 2013; 132:222-3.


Outcome of haematopoietic stem cell transplantation for adenosine deaminase- deficient severe combined immunodeficiency.

Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, Hönig M, Friedrich W, Gennery A, Slatter M, Bredius R, Finocchi A, Cancrini C, Aiuti A, Porta F, Lanfranchi A, Ridella M, Steward C, Filipovich A, Marsh R, Bordon V, Al-Muhsen S, Al-Mousa H, Alsum Z, Al-Dhekri H, Al Ghonaium A, Speckmann C, Fischer A, Mahlaoui N, Nichols KE, Grunebaum E, Al Zahrani D, Roifman CM, Boelens J, Davies EG, Cavazzana-Calvo M, Notarangelo L, Gaspar HB; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and European Society for Immunodeficiency. 

Blood 2012; 120:3615-3624

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