Article
Gastroenterology & Hepatology
Anusha Vittal, Nehna Abdul Majeed, Elizabeth Garabedian, Jamie Marko, David E. Kleiner, Rob Sokolic, Fabio Candotti, Harry Malech, Theo Heller, Christopher Koh
Summary: A cross-sectional study was conducted to describe liver disease in autosomal recessive ADA-SCID patients, revealing that steatosis is the most common pathological finding.
BMC GASTROENTEROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Anna Bogdal, Andrzej Badenski, Malgorzata Pac, Anna Wojcicka, Marta Badenska, Agnieszka Didyk, Elzbieta Trembecka-Dubel, Nel Dabrowska-Leonik, Malgorzata Walaszczyk, Natalia Matysiak, Aurelia Morawiec-Knysak, Tomasz Szczepanski, Maria Szczepanska
Summary: Hemolytic uremic syndrome (HUS) and severe combined immunodeficiency (SCID) are two rare but life-threatening diseases that rarely coexist, but may potentially influence the progression of each other. For patients with both conditions, a comprehensive diagnostic and treatment plan is necessary.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Immunology
Elisabetta Ghimenton, Aisling Flinn, Su Han Lum, Timothy R. Leahy, Zohreh Nademi, Stephen Owens, Eleri Williams, Terrence Flood, Sophie Hambleton, Mary Slatter, Andrew R. Gennery
Summary: In the treatment of ADA-SCID patients with HSCT, chemotherapy conditioning, the use of alemtuzumab, and receiving stem cells from unrelated or haploidentical donors contribute to improved survival rates. Results of HSCT have improved since 2007, with no deaths reported and a low incidence of acute graft-versus-host disease (GvHD). Conditioned HSCT with matched unrelated donors has a favorable outcome for ADA-deficient patients.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Hematology
Geoffrey D. E. Cuvelier, Brent R. Logan, Susan E. Prockop, Rebecca H. Buckley, Caroline Y. Kuo, Linda M. Griffith, Xuerong Liu, Alison Yip, Michael S. Hershfield, Paul G. Ayoub, Theodore B. Moore, Morna J. Dorsey, Richard J. O'Reilly, Neena Kapoor, Sung-Yun Pai, Malika Kapadia, Christen L. Ebens, Lisa R. Forbes Satter, Lauri M. Burroughs, Aleksandra Petrovic, Deepak Chellapandian, Jennifer Heimall, David C. Shyr, Ahmad Rayes, Jeffrey J. Bednarski, Sharat Chandra, Shanmuganathan Chandrakasan, Alfred P. Gillio, Lisa Madden, Troy C. Quigg, Emi H. Caywood, Blachy J. Davila Saldana, Kenneth DeSantes, Hesham Eissa, Frederick D. Goldman, Jacob Rozmus, Ami J. Shah, Mark T. Vander Lugt, Monica S. Thakar, Roberta E. Parrott, Caridad Martinez, Jennifer W. Leiding, Troy R. Torgerson, Michael A. Pulsipher, Luigi D. Notarangelo, Morton J. Cowan, Christopher C. Dvorak, Elie Haddad, Jennifer M. Puck, Donald B. Kohn
Summary: Adenosine deaminase (ADA) deficiency is one of the causes of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). The study found that patients who underwent ERT before HCT or GT had better outcomes.
Article
Immunology
Delia Nicoara, Cristina Nita, Ana Stanila, Alexandru Martiniuc, Laura Popa, Eliana Petrescu, Mihaela Bataneant, Ruxandra Ciofu, Adriana Gurita, Radu Tabacaru, Ruxandra Ionescu, Laura Groseanu
Summary: This case report describes a patient with DADA2 deficiency, who developed symptoms at 3 years old but was not diagnosed until the age of 18. The patient presented with severe gastrointestinal vasculitis and recurrent neutropenia episodes, which were associated with a novel CECR1 mutation.
IMMUNITY INFLAMMATION AND DISEASE
(2023)
Article
Dermatology
Tatjana D. Wahjudi, Heinz Kutzner, Matthias Bleeke, Peter H. Hoeger
Summary: This case study demonstrates the development of multiple dermatofibrosarcoma protuberans in a 4-year-old boy post-human stem cell transplantation for severe combined immunodeficiency due to adenosine deaminase deficiency. It suggests a potential role of chimerism in toxic metabolite accumulation and DNA damage leading to DFSP. Lifelong dermatologic surveillance is essential for ADA-SCID patients due to the inconspicuous nature of DFSP lesions.
PEDIATRIC DERMATOLOGY
(2021)
Article
Medicine, Research & Experimental
Toru Uchiyama, Sirirat Takahashi, Kazuhiko Nakabayashi, Kohji Okamura, Kaori Edasawa, Masafumi Yamada, Nobuyuki Watanabe, Emi Mochizuki, Toru Yasuda, Akane Miura, Motohiro Kato, Daisuke Tomizawa, Makoto Otsu, Tadashi Ariga, Masafumi Onodera
Summary: This study investigated the long-term effects of stem cell-based gene therapy using GCsapM-ADA retroviral vectors in two ADA-SCID patients. After more than 10 years, higher vector copy numbers were observed in T cells, with an increase in vector copy number during differentiation towards memory T and B cells. Although neither patient developed leukemia, clonal expansion of SCGT-derived clones was observed in both patients. Integration sites common to all hematopoietic lineages suggested engraftment of gene-marked progenitors in one patient, pointing to the potential risks of clonal dominance associated with the use of retroviral vectors.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2021)
Article
Multidisciplinary Sciences
Federico A. Moretti, Giuliana Giardino, Teresa C. H. Attenborough, Athina Soragia Gkazi, Ben K. Margetts, Giancarlo la Marca, Lynette Fairbanks, Tessa Crompton, H. Bobby Gaspar
Summary: Deficiency of adenosine deaminase (ADA) leads to severe combined immunodeficiency (SCID), affecting T cell development and function. Enzyme replacement therapy (ERT) using PEG-ADA is a life-saving but not fully corrective treatment for ADA-SCID patients, as it fails to completely correct metabolic or immunological abnormalities within the thymus.
SCIENTIFIC REPORTS
(2021)
Article
Allergy
Luis Murguia-Favela, Sneha Suresh, Nicola A. M. Wright, Saima Alvi, Sarah Tehseen, Vivian Hernandez-Trujillo, Christine M. Seroogy, Elie Haddad, Daime Nieves, Michael S. Hershfield, Jolan E. Walter, Leah Pettiford, Naynesh R. Kamani, Michael D. Keller, Anne Pham-Huy, Eyal Grunebaum
Summary: This study investigated the long-term benefits of REVCOVI in ADA-SCID patients by collecting data from 17 patients treated with REVCOVI for at least 6 months. The results showed that REVCOVI effectively improved clinical and laboratory complications and increased immune function in ADA-SCID patients.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2023)
Article
Immunology
Guo-min Li, Xu Han, Ye Wu, Wei Wang, Hong-xia Tang, Mei-ping Lu, Xue-mei Tang, Yi Lin, Fan Deng, Jun Yang, Xin-ning Wang, Cong-cong Liu, Wen-jie Zheng, Bing-bing Wu, Fang Zhou, Hong Luo, Liang Zhang, Hai-mei Liu, Wan-zhen Guan, Shi-hao Wang, Pan-feng Tao, Tai-jie Jin, Ran Fang, Yuan Wu, Jie Zhang, Yao Zhang, Tian-nan Zhang, Wei Yin, Li Guo, Wen-jing Tang, Hong Chang, Qiu-ye Zhang, Xiao-zhong Li, Jian-guo Li, Zhi-xuan Zhou, Si-rui Yang, Kang-kang Yang, Hong Xu, Hong-mei Song, Natalie T. Deuitch, Pui Y. Lee, Qing Zhou, Li Sun
Summary: This study aimed to systematically investigate deficiency of adenosine deaminase 2 (DADA2) in the Chinese population. A retrospective analysis of 30 DADA2 patients identified through whole exome sequencing was conducted. The patients commonly presented with systemic inflammation, vasculitis, and hypogammaglobinemia, with two patients dying from complications. TNF inhibitors were the first-line treatment for vascular phenotypes, while hematopoietic stem cell transplantation may be beneficial for patients with hematological disease or refractory to TNF inhibitors.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Review
Immunology
Donald B. Kohn
Summary: ADA SCID is a severe inborn immune deficiency disease that can be effectively treated using gene therapy. Continuous improvements in treatment methods have led to significant immune restoration and stable engraftment of gene-corrected hematopoietic stem cells in most ADA SCID patients. However, achieving sustained availability and access to this therapy remains challenging.
IMMUNOLOGICAL REVIEWS
(2023)
Article
Immunology
Eun Sang Yi, Hee Young Ju, Hee Won Cho, Ji Won Lee, Ki Woong Sung, Hong Hoe Koo, Eun-Suk Kang, Kang Mo Ahn, Yae-Jean Kim, Keon Hee Yoo
Summary: We retrospectively analyzed the medical records of five patients with T-B+NK-severe combined immunodeficiency (SCID) who underwent minimal dose allogeneic hematopoietic cell transplantation (HCT). The patients received a median of 5.0 mL of bone marrow or peripheral blood, with or without conditioning. All patients achieved engraftment and showed recovery of T cell, CD4+ cell, and CD8+ cell within a year. Immunoglobulin replacement was discontinued in all patients and they exhibited stable donor chimerism. Minimal dose transplantation without intensive conditioning showed sufficient therapeutic effects in patients with T-B+NK-SCID.
CLINICAL IMMUNOLOGY
(2023)
Review
Health Care Sciences & Services
Elizabeth Secord, Nicholas L. Hartog
Summary: This article reviews the history of ADA SCID, the treatment options available, and the development of gene therapy for ADA SCID, as well as the current state of the risks and benefits associated with gene therapy.
THERAPEUTICS AND CLINICAL RISK MANAGEMENT
(2022)
Article
Immunology
Wenwen Luo, Liang Dong, Fenghong Chen, Wenbin Lei, Liya He, Qing Zhou, Thierry Lamy, Andrey V. Zavialov
Summary: Adenosine deaminase (ADA) has two types, ADA1 and ADA2, which differ in expression, cellular localization, and catalytic properties. ADA2 concentration is significantly lower in DADA2 patients but higher in patients with large granular leukocyte leukemia and head and neck cancer. This method can be used for the diagnosis of DADA2 and the follow-up treatment of LGLL and head and neck cancer.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Allergy
Olga Hardin, Yuliya Lokhnygina, Rebecca H. Buckley
Summary: This study characterized the long-term outcomes of patients with SCID treated at a single center. The age at transplant was found to be a key variable in survival, and some patients experienced health issues, although the majority had good overall health and achieved academic success.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2022)
Letter
Biophysics
Valeria Calbi, Francesca Fumagalli, Giulia Consiglieri, Rachele Penati, Serena Acquati, Daniela Redaelli, Vanessa Attanasio, Facchini Marcella, Maria Pia Cicalese, Maddalena Migliavacca, Federica Barzaghi, Francesca Ferrua, Andrea Assanelli, Paolo Silvani, Matteo Zoccolillo, Giovanna Chidini, Robert Chiesa, Ruchi Arora, Francesca Ciotti, Marina Sarzana, Gigliola Antonioli, Cristina Baldoli, Francesco Morena, Sabata Martino, Gian Luigi Ardissino, Maria Grazia Natali Sora, Luigi Naldini, Fabio Ciceri, Alessandro Aiuti, Maria Ester Bernardo
BONE MARROW TRANSPLANTATION
(2018)
Article
Immunology
Maria Chiriaco, Fabio Casciano, Gigliola Di Matteo, Berhard Gentner, Alessia Claps, Silvia Di Cesare, Nicola Cotugno, Patrizia D'Argenio, Paolo Rossi, Alessandro Aiuti, Andrea Finocchi
CLINICAL IMMUNOLOGY
(2018)
Article
Allergy
Karla E. Cervantes-Luevano, Nicoletta Caronni, Maria C. Castiello, Elena Fontana, Giulia M. Piperno, Asma Naseem, Paolo Uva, Marita Bosticardo, Genni E. Marcovecchio, Luigi D. Notarangelo, Maria P. Cicalese, Alessandro Aiuti, Anna Villa, Federica Benvenuti
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2018)
Article
Allergy
Lucia Sereni, Maria Carmina Castiello, Francesco Marangoni, Achille Anselmo, Dario di Silvestre, Sara Motta, Elena Draghici, Stefano Mantero, Adrian J. Thrasher, Silvia Giliani, Alessandro Aiuti, Pierluigi Mauri, Luigi D. Notarangelo, Marita Bosticardo, Anna Villa
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2018)
Article
Allergy
Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, Zeynep Yesim Kucuk, Jack J. Bleesing, Zohreh Nademi, Mary Anne Slatter, Erlinda Rose Ulloa, Anna Shcherbina, Anna Roppelt, Austen Worth, Juliana Silva, Alessandro Aiuti, Luis Murguia-Favela, Carsten Speckmann, Magda Carneiro-Sampaio, Juliana Folloni Fernandes, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Ayca Kiykim, Ansgar Schulz, Sandra Steinmann, Lucia Dora Notarangelo, Eleonora Gambineri, Paolo Lionetti, William Thomas Shearer, Lisa R. Forbes, Caridad Martinez, Despina Moshous, Stephane Blanche, Alain Fisher, Frank M. Ruemmele, Come Tissandier, Marie Ouachee-Chardin, Frederic Rieux-Laucat, Marina Cavazzana, Waseem Qasim, Barbarella Lucarelli, Michael H. Albert, Ichiro Kobayashi, Laura Alonso, Cristina Diaz De Heredia, Hirokazu Kanegane, Anita Lawitschka, Jong Jin Seo, Marta Gonzalez-Vicent, Miguel Angel Diaz, Rakesh Kumar Goyal, Martin G. Sauer, Akif Yesilipek, Minsoo Kim, Yesim Yilmaz-Demirdag, Monica Bhatia, Julie Khlevner, Erick J. Richmond Padilla, Silvana Martino, Davide Montin, Olaf Neth, Agueda Molinos-Quintana, Justo Valverde-Fernandez, Arnon Broides, Vered Pinsk, Antje Ballauf, Filomeen Haerynck, Victoria Bordon, Catharina Dhooge, Maria Laura Garcia-Lloret, Robbert G. Bredius, Krzysztof Kalwak, Elie Haddad, Markus Gerhard Seidel, Gregor Duckers, Sung-Yun Pai, Christopher C. Dvorak, Stephan Ehl, Franco Locatelli, Frederick Goldman, Andrew Richard Gennery, Mort J. Cowan, Maria-Grazia Roncarolo, Rosa Bacchetta
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2018)
Article
Biotechnology & Applied Microbiology
Maria Pia Cicalese, Francesca Ferrua, Laura Castagnaro, Katie Rolfe, Erika De Boever, Rickey R. Reinhardt, Jonathan Appleby, Maria Grazia Roncarolo, Alessandro Aiuti
Article
Immunology
Maria Elena Maccari, Hassan Abolhassani, Asghar Aghamohammadi, Alessandro Aiuti, Olga Aleinikova, Catherine Bangs, Safa Baris, Federica Barzaghi, Helen Baxendale, Matthew Buckland, Siobhan O. Burns, Caterina Cancrini, Andrew Cant, Pascal Cathebras, Marina Cavazzana, Anita Chandra, Francesca Conti, Tanya Coulter, Lisa A. Devlin, J. David M. Edgar, Saul Faust, Alain Fischer, Marina Garcia Prat, Lennart Hammarstrom, Maximilian Heeg, Stephen Jolles, Elif Karakoc-Aydiner, Gerhard Kindle, Ayca Kiykim, Dinakantha Kumararatne, Bodo Grimbacher, Hilary Longhurst, Nizar Mahlaoui, Tomas Milota, Fernando Moreira, Despina Moshous, Anna Mukhina, Olaf Neth, Benedicte Neven, Alexandra Nieters, Peter Olbrich, Ahmet Ozen, Jana Pachlopnik Schmid, Capucine Picard, Seraina Prader, William Rae, Janine Reichenbach, Stephan Rusch, Sinisa Savic, Alessia Scarselli, Raphael Scheible, Anna Sediva, Svetlana O. Sharapova, Anna Shcherbina, Mary Slatter, Pere Soler-Palacin, Aurelie Stanislas, Felipe Suarez, Francesca Tucci, Annette Uhlmann, Joris van Montfrans, Klaus Warnatz, Anthony Peter Williams, Phil Wood, Sven Kracker, Alison Mary Condliffe, Stephan Ehl
FRONTIERS IN IMMUNOLOGY
(2018)
Review
Immunology
Maddalena Migliavacca, Andrea Assanelli, Maurilio Ponzoni, Roberta Pajno, Federica Barzaghi, Fabio Giglio, Francesca Ferrua, Marta Frittoli, Immacolata Brigida, Francesca Dionisio, Roberto Nicoletti, Miriam Casiraghi, Maria Grazia Roncarolo, Claudio Doglioni, Jacopo Peccatori, Fabio Ciceri, Maria Pia Cicalese, Alessandro Aiuti
FRONTIERS IN IMMUNOLOGY
(2018)
Article
Biochemical Research Methods
Luca Basso-Ricci, Serena Scala, Raffaella Milani, Maddalena Migliavacca, Attilio Rovelli, Maria Ester Bernardo, Fabio Ciceri, Alessandro Aiuti, Luca Biasco
Meeting Abstract
Hematology
S. Marktel, M. P. Cicalese, F. Giglio, V. Calbi, M. Casiraghi, S. Scaramuzza, F. Ciotti, M. R. Lidonicci, C. Rossi, N. Masera, E. D'Angelo, N. Mirra, R. Origa, G. Mandelli, R. Milani, S. Gattillo, M. Coppola, G. Viarengo, L. Santoleri, A. Calabria, E. Montini, G. Graziadei, L. Naldini, M. D. Cappellini, F. Ciceri, A. Aiuti, G. Ferrari
Meeting Abstract
Biotechnology & Applied Microbiology
Lucia Sereni, Maria Carmina Castiello, Achille Anselmo, Francesco Marangoni, Dario Di Silvestre, Sara Motta, Donato Inverso, Roberto Aiolfi, Elena Draghici, Adrian J. Thrasher, Silvia Giliani, Alessandro Aiuti, Matteo Iannacone, Pierluigi Mauri, Luigi D. Notarangelo, Marita Bosticardo, Anna Villa
Article
Immunology
Maria Chiriaco, Immacolata Brigida, Paola Ariganello, Silvia Di Cesare, Gigliola Di Matteo, Francesco Taus, Davide Cittaro, Dejan Lazarevic, Alessia Scarselli, Veronica Santilli, Enrico Attardi, Elia Stupka, Stefania Giannelli, Maurizio Fraziano, Andrea Finocchi, Paolo Rossi, Alessandro Aiuti, Paolo Palma, Caterina Cancrini
CLINICAL IMMUNOLOGY
(2017)
Meeting Abstract
Immunology
Jannik S. Glasmacher, Tanja C. Bittner, Hans D. Ochs, Alessandro Aiuti, Peter Arkwright, Dmitry N. Balashov, Uta Behrends, Elsa Berardi, Elisa Bertoni, Anastasiia Bondarenko, Michael Browning, David Buchbinder, Fabio Candotti, Alessandro Cattoni, Liudmyla Chernyshova, Joseph Chewning, Peter Ciznar, Theresa Cole, Beatriz T. Costa Carvalho, Wojciech Czogala, Liu Dawei, Gregor Dueckers, J. David M. Edgar, Fatih Erbey, Anders Fasth, Renata Formankova, Tomas Freiberger, Eleonora Gambineri, Andrew R. Gennery, Segundo R. S. Gesmar, Fred Goldman, Luis Ignacio Gonzalez-Granado, Tiago Nunes Guimaraes, David Hagin, Tarja Heiskanen-Kosma, Manfred Honig, Hanna Juntti, Leena Kainulainen, Hirokazu Kanegane, Neslihan E. Karaca, Sara Kilic, Christoph Klein, Sylwia Koltan, Irina Kondratenko, Susanne Matthes, Juliana T. L. Mazzucchelli, Isabelle Meyts, Charline Miot, Siraj Misbah, Zohreh Nademi, Gulnara Nasrullayeva, Lucia D. Notarangelo, Olga Pashchenko, Srdjan Pasic, Isabelle Pellier, Claudio Pignata, Camilla Roepstorff, Ansgar Schulz, Catharina Schutz, Anna Shcherbina, Joanne Smart, Rob Sokolic, Pere Soler-Palacin, Polina Stepensky, Troy R. Torgerson, Svetlana Vakhlyarskaya, Joris van Montfrans, Kim Vettenranta, Beata Wolska, Zhao Xiaodong, John B. Ziegler, Michael H. Albert
JOURNAL OF CLINICAL IMMUNOLOGY
(2017)