Article
Hematology
Bryanna Reinhardt, Omar Habib, Kit L. Shaw, Elizabeth Garabedian, Denise A. Carbonaro-Sarracino, Dayna Terrazas, Beatriz Campo Fernandez, Satiro De Oliveira, Theodore B. Moore, Alan K. Ikeda, Barbara C. Engel, Gregory M. Podsakoff, Roger P. Hollis, Augustine Fernandes, Connie Jackson, Sally Shupien, Suparna Mishra, Alejandra Davila, Jack Mottahedeh, Andrej Vitomirov, Wenzhao Meng, Aaron M. Rosenfeld, Aoife M. Roche, Pascha Hokama, Shantan Reddy, John Everett, Xiaoyan Wang, Eline T. Luning Prak, Kenneth Cornetta, Michael S. Hershfield, Robert Sokolic, Suk See De Ravin, Harry L. Malech, Frederic D. Bushman, Fabio Candotti, Donald B. Kohn
Summary: Gene therapy for ADA SCID has shown long-term efficacy in immune reconstitution, with younger patients and those receiving higher doses of gene-marked CD34(+) cells generally having better outcomes. However, risks of genotoxicity with gammaretroviral vectors have also been highlighted.
Article
Medicine, General & Internal
Francesca Fumagalli, Valeria Calbi, Maria Grazia Natali Sora, Maria Sessa, Cristina Baldoli, Paola Maria Rancoita, Francesca Ciotti, Marina Sarzana, Maddalena Fraschini, Alberto Andrea Zambon, Serena Acquati, Daniela Redaelli, Vanessa Attanasio, Simona Miglietta, Fabiola De Mattia, Federica Barzaghi, Francesca Ferrua, Maddalena Migliavacca, Francesca Tucci, Vera Gallo, Ubaldo Del Carro, Sabrina Canale, Ivana Spiga, Laura Lorioli, Salvatore Recupero, Elena Sophia Fratini, Francesco Morena, Paolo Silvani, Maria Rosa Calvi, Marcella Facchini, Sara Locatelli, Ambra Corti, Stefano Zancan, Gigliola Antonioli, Giada Farinelli, Michela Gabaldo, Jesus Garcia-Segovia, Laetitia C. Schwab, Gerald F. Downey, Massimo Filippi, Maria Pia Cicalese, Sabata Martino, Clelia Di Serio, Fabio Ciceri, Maria Ester Bernardo, Luigi Naldini, Alessandra Biffi, Alessandro Aiuti
Summary: This study investigated the safety and efficacy of atidarsagene autotemcel (arsa-cel) in patients with metachromatic leukodystrophy (MLD). The results showed that arsa-cel treatment can preserve cognitive function and motor development, and slow down demyelination and brain atrophy in children with early-onset MLD.
Article
Medicine, General & Internal
Monica S. Thakar, Brent R. Logan, Jennifer M. Puck, Elizabeth A. Dunn, Rebecca H. Buckley, Morton J. Cowan, Richard J. O'Reilly, Neena Kapoor, Lisa Forbes Satter, Sung-Yun Pai, Jennifer Heimall, Sharat Chandra, Christen L. Ebens, Deepak Chellapandian, Olatundun Williams, Lauri M. Burroughs, Blachy Davila Saldana, Ahmad Rayes, Lisa M. Madden, Shanmuganathan Chandrakasan, Jeffrey J. Bednarski, Kenneth B. Desantes, Geoffrey D. E. Cuvelier, Pierre Teira, Alfred P. Gillio, Hesham Eissa, Alan P. Knutsen, Frederick Goldman, Victor M. Aquino, Evan B. Shereck, Theodore B. Moore, Emi H. Caywood, Mark T. Vander Lugt, Jacob Rozmus, Larisa Broglie, Lolie C. Yu, Ami J. Shah, Jeffrey R. Andolina, Xuerong Liu, Roberta E. Parrott, Jasmeen Dara, Susan Prockop, Caridad A. Martinez, Malika Kapadia, Soma C. Jyonouchi, Kathleen E. Sullivan, Jack J. Bleesing, Sonali Chaudhury, Aleksandra Petrovic, Michael Keller, Troy C. Quigg, Suhag Parikh, Shalini Shenoy, Christine Seroogy, Tamar Rubin, Helene Decaluwe, John M. Routes, Troy R. Torgerson, Jennifer W. Leiding, Michael A. Pulsipher, Donald B. Kohn, Linda M. Griffith, Elie Haddad, Christopher C. Dvorak, Luigi D. Notarangelo
Summary: This study found that population-based newborn screening plays a crucial role in early detection and prompt treatment of SCID. The overall 5-year survival rate has significantly increased with the implementation of newborn screening, and the promotion of this screening method can benefit public health programs globally.
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)
Article
Pediatrics
Jean-Sebastien Diana, Naim Bouazza, Chloe Couzin, Martin Castelle, Alessandra Magnani, Elisa Magrin, Jeremie Rosain, Jean-Marc Treluyer, Capucine Picard, Despina Moshous, Stephane Blanche, Benedicte Neven, Marina Cavazzana
Summary: The study successfully predicted the time course and extent of CD4+ T-cell immune reconstitution after CD34+ selected transplantation using a Bayesian modeling approach based on age-related changes in thymic output and the cell proliferation/loss model.
FRONTIERS IN PEDIATRICS
(2022)
Article
Immunology
Mary A. Slatter, Andrew R. Gennery
Summary: This article reviews the latest evidence on achieving curative treatment with minimal short- and long-term toxicity, normal immune reconstitution, and good quality of life.
CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Elif Ozturk, Mehmet Cihangir Catak, Ayca Kiykim, Dilek Baser, Sevgi Bilgic Eltan, Koray Yalcin, Nurhan Kasap, Ercan Nain, Alper Bulutoglu, Gamze Akgun, Yasemin Can, Asena Pinar Sefer, Royala Babayeva, Suar Caki-Kilic, Gulsun Tezcan Karasu, Akif Yesilipek, Ahmet Ozen, Elif Karakoc-Aydiner, Safa Baris
Summary: This study evaluates the clinical manifestations, infections, and outcomes of hematopoietic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency (SCID). The study finds a higher overall survival rate after HSCT, with peripheral blood stem cell sources and genotypes having a positive impact on immune reconstitution. Gender matching transplantations and the use of peripheral blood stem cell sources result in higher B-cell reconstitution. Receiving a conditioning regimen also improves B-cell reconstitution and chimerism. However, patients with active infection or receiving stem cells from mismatched donors have lower survival rates after transplantation.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Nel Dabrowska-Leonik, Agata Karolina Pastorczak, Katarzyna Babol-Pokora, Katarzyna Bernat-Sitarz, Barbara Piatosa, Edyta Heropolitanska-Pliszka, Magdalena M. Kacprzak, Krzysztof Kalwak, Katarzyna Gul, Mirjam van der Burg, Marek Ussowicz, Malgorzata Pac
Summary: DNA ligase I deficiency is an extremely rare primary immunodeficiency characterized by radiosensitivity, macrocytic anemia, and immune dysfunction. This study reports a case of a compound heterozygote carrying two novel variants in the LIG1 gene, presenting with features of Omenn syndrome.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Pandiarajan Vignesh, Amit Rawat, Rajni Kumrah, Ankita Singh, Anjani Gummadi, Madhubala Sharma, Anit Kaur, Johnson Nameirakpam, Ankur Jindal, Deepti Suri, Anju Gupta, Alka Khadwal, Biman Saikia, Ranjana Walker Minz, Kaushal Sharma, Mukesh Desai, Prasad Taur, Vijaya Gowri, Ambreen Pandrowala, Aparna Dalvi, Neha Jodhawat, Priyanka Kambli, Manisha Rajan Madkaikar, Sagar Bhattad, Stalin Ramprakash, C. P. Raghuram, Ananthvikas Jayaram, Meena Sivasankaran, Deenadayalan Munirathnam, Sarath Balaji, Aruna Rajendran, Amita Aggarwal, Komal Singh, Fouzia Na, Biju George, Ankit Mehta, Harsha Prasada Lashkari, Ramya Uppuluri, Revathi Raj, Sandip Bartakke, Kirti Gupta, Sreejesh Sreedharanunni, Yumi Ogura, Tamaki Kato, Kohsuke Imai, Koon Wing Chan, Daniel Leung, Osamu Ohara, Shigeaki Nonoyama, Michael Hershfield, Yu-Lung Lau, Surjit Singh
Summary: This study described the clinical and laboratory features of SCID diagnosed at immunology centers across India, with data obtained from 277 children. Most patients were diagnosed with SCID around 5 months of age, and molecular diagnosis revealed different gene mutations. Despite some children receiving hematopoietic stem cell transplantation, a majority of patients still died.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Satoshi Miyamoto, Katsutsugu Umeda, Mio Kurata, Akira Nishimura, Masakatsu Yanagimachi, Masataka Ishimura, Maho Sato, Tomonari Shigemura, Motohiro Kato, Yoji Sasahara, Akihiro Iguchi, Takashi Koike, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Yoshiko Hashii, Hiromasa Yabe, Koji Kato, Yoshiko Atsuta, Kohsuke Imai, Tomohiro Morio
Summary: This nationwide study in Japan found that umbilical cord blood (UCB) transplantation can be a potential donor source for SCID patients. Additionally, early age at HCT and absence of active infection are critical for a better prognosis in SCID patients.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Immunology
Nashat Al Sukaiti, Khwater Ahmed, Jalila Alshekaili, Mahmood Al Kindi, Matthew C. Cook, Tariq Al Farsi
Summary: This study reports the clinical, immunological, and molecular findings of 36 children diagnosed with SCID at a tertiary medical center in Oman over the past decade. The results show a median annual incidence rate of 4.5 per 100,000 Omani live births, with 91.7% of affected children born to consanguineous parents.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Shuangjun Liu, Feng Huo, Guorui Dai, Jie Wu, Maoquan Qin, Huawei Mao, Quan Wang
Summary: This case report describes a patient who developed immune reconstitution inflammatory syndrome (IRIS) after hematopoietic stem cell transplantation, following severe disseminated infection caused by bacillus Calmette-Guerin (BCG) vaccine. The patient experienced complications including veno-occlusive disease and acute graft-versus-host disease post-transplant, with symptoms of IRIS emerging after immunosuppressants were withdrawn.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Duygu Demirtas, Deniz Cagdas, Tuba Turul Ozgur, Baris Kuskonmaz, Duygu Uckan Cetinkaya, Ozden Sanal, Ilhan Tezcan
Summary: This study evaluated the outcomes of hematopoietic stem cell transplantation in 44 patients with severe combined immunodeficiency. The majority of patients showed normal immune reconstitution and growth after HSCT. It may be beneficial to use bone marrow instead of peripheral stem cells due to lower incidence of acute GVHD in bone marrow transplanted patients.
IMMUNOLOGICAL INVESTIGATIONS
(2022)
Review
Cell & Tissue Engineering
Gabriela Sanchez-Petitto, Katayoun Rezvani, May Daher, Hind Rafei, Partow Kebriaei, Elizabeth J. Shpall, Amanda Olson
Summary: Umbilical cord blood transplantation is an attractive alternative source of hematopoietic stem cells, with unique immune tolerance and engraftment kinetics. It has a lower risk of GvHD and comparable clinical outcomes to bone marrow transplantation. However, limitations in cell numbers and delayed engraftment pose challenges for its wider application. Research is being conducted to address these limitations and explore the potential of cord blood in treating various disorders.
STEM CELLS TRANSLATIONAL MEDICINE
(2023)
Article
Genetics & Heredity
Zhongyang Ma, Dongjun Li, Xue Yang, Juan Liang, Yiping Zhu
Summary: This article reports a case of umbilical cord blood hematopoietic stem cell transplantation in a male infant diagnosed with XLSA, who developed hepatic vein occlusion after the procedure but was successfully treated and experienced significant improvement in quality of life.
FRONTIERS IN GENETICS
(2022)
Article
Hematology
Alessandra Magnani, Corinne Pondarre, Naim Bouazza, Jeremy Magalon, Annarita Miccio, Emmanuelle Six, Cecile Roudaut, Cecile Arnaud, Annie Kamdem, Fabien Touzot, Aurelie Gabrion, Elisa Magrin, Chloe Couzin, Mathieu Fusaro, Isabelle Andre, Jean-Paul Vernant, Eliane Gluckman, Francoise Bernaudin, Dominique Bories, Marina Cavazzana
Article
Surgery
Julien Zuber, Olivia Boyer, Benedicte Neven, Isabelle Jollet, Virginie Renac, Romain Berthaud, Romain Levy, Baptiste Lamarthee, Jonathan Visentin, Armance Marchal, Nathalie Gouge-Biebuyck, Astrid Godron-Dubrasquet, Nathalie Aladjidi, Melissa O. Rabah, Sarah Winter, Juliette Leon, Michael Dussiot, Marion Rabant, Saoussen Krid, Pauline Krug, Marina Charbit, Florence Lacaille, Isabelle Andre, Marina Cavazzana, Brigitte Llanas, Lise Allard, France Pirenne, Sylvie Gross, Rachid Djoudi, Pierre Tiberghien, Jean-Luc Taupin, Stephane Blanche, Remi Salomon
AMERICAN JOURNAL OF TRANSPLANTATION
(2020)
Article
Hematology
Emmanuelle Six, Agathe Guilloux, Adeline Denis, Arnaud Lecoules, Alessandra Magnani, Romain Vilette, Frances Male, Nicolas Cagnard, Marianne Delville, Elisa Magrin, Laure Caccavelli, Cecile Roudaut, Clemence Plantier, Steicy Sobrino, John Gregg, Christopher L. Nobles, John K. Everett, Salima Hacein-Bey-Abina, Anne Galy, Alain Fischer, Adrian J. Thrasher, Isabelle Andre, Marina Cavazzana, Frederic D. Bushman
Article
Hematology
Chantal Lagresle-Peyrou, Aurelien Olichon, Hanem Sadek, Philippe Roche, Claudine Tardy, Cindy Da Silva, Alexandrine Garrigue, Alain Fischer, Despina Moshous, Yves Collette, Capucine Picard, Jean Laurent Casanova, Isabelle Andre, Marina Cavazzana
Summary: Severe combined immunodeficiencies (SCID) are life-threatening genetic disorders characterized by T cell deficiency and B-cell compartment defects. A study identified a RAC2 gene mutation associated with SCID, indicating the importance of screening such mutations for diagnosis and treatment of patients.
Article
Allergy
Mathieu Fusaro, Jeremie Rosain, Virginie Grandin, Nathalie Lambert, Sylvain Hanein, Cecile Fourrage, Nicholas Renaud, Marine Gil, Samuel Chevalier, Wadih Abou Chahla, Brigitte Bader-Meunier, Vincent Barlogis, Stephane Blanche, David Boutboul, Martin Castelle, Thibault Comont, Jean-Sebastien Diana, Claire Fieschi, Lionel Galicier, Olivier Hermine, Alain Lefevre-Utile, Marion Malphettes, Etienne Merlin, Eric Oksenhendler, Marlene Pasquet, Felipe Suarez, Isabelle Andre, Vivien Beziat, Genevieve de Saint Basile, Jean-Pierre De Villartay, Sven Kracker, Chantal Lagresle-Peyrou, Sylvain Latour, Frederic Rieux-Laucat, Nizar Mahlaoui, Christine Bole, Patrick Nitschke, Elisabeth Hulier-Ammar, Alain Fischer, Despina Moshous, Benedicte Neven, Alexandre Alcais, Guillaume Vogt, Jacinta Bustamante, Capucine Picard
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Hematology
Marianne Delville, Florence Bellier, Juliette Leon, Roman Klifa, Sabrina Lizot, Helene Vincon, Steicy Sobrino, Romane Thouenon, Armance Marchal, Alexandrine Garrigue, Juliette Olivre, Soeli Charbonnier, Chantal Lagresle-Peyrou, Mario Amendola, Axel Schambach, David Gross, Baptiste Lamarthee, Christophe Benoist, Julien Zuber, Isabelle Andre, Marina Cavazzana, Emmanuelle Six
Summary: The IPEX syndrome is caused by mutations in the FOXP3 gene, leading to loss of Treg function and early development of autoimmune symptoms. Gene transfer of FOXP3 has shown promise in treating IPEX. Using an in vivo model with scurfy mice, researchers demonstrated the potential to rescue the disease after its onset, suggesting that FOXP3 expression can convert CD4(+) T cells into functional Tregs capable of controlling severe autoimmune disease.
Article
Immunology
David Zemmour, Louis-Marie Charbonnier, Juliette Leon, Emmanuelle Six, Sevgi Keles, Marianne Delville, Mehdi Benamar, Safa Baris, Julien Zuber, Karin Chen, Benedicte Neven, Maria I. Garcia-Lloret, Frank M. Ruemmele, Carlo Brugnara, Nadine Cerf-Bensussan, Frederic Rieux-Laucat, Marina Cavazzana, Isabelle Andre, Talal A. Chatila, Diane Mathis, Christophe Benoist
Summary: FOXP3 deficiency leads to the alteration of regulatory T cells in both mice and patients with IPEX syndrome, resulting in fatal autoimmunity. The study found a two-step pathogenesis model where core FOXP3-dependent genes are downregulated, destabilizing T-reg cells and promoting systemic inflammation, ultimately disrupting immune homeostasis. Treatment with interleukin-2 improved survival by targeting the T-reg-like compartment.
Article
Immunology
Ranjita Devi Moirangthem, Kuiying Ma, Sabrina Lizot, Anne Cordesse, Juliette Olivre, Corinne de Chappedelaine, Akshay Joshi, Agata Cieslak, John Tchen, Nicolas Cagnard, Vahid Asnafi, Antonio Rausell, Laura Simons, Julien Zuber, Tom Taghon, Frank J. T. Staal, Francoise Pflumio, Emmanuelle Six, Marina Cavazzana, Chantal Lagresle-Peyrou, Tayebeh Soheili, Isabelle Andre
Summary: Adding TNF alpha to the culture system can generate a large number of HTLPs with highly efficient T-cell potential, which accelerates T-cell differentiation and enhances cell survival rates.
CELLULAR & MOLECULAR IMMUNOLOGY
(2021)
Review
Pediatrics
Nidia Moreno-Corona, Loic Chentout, Lucie Poggi, Romane Thouenon, Cecile Masson, Melanie Parisot, Lou Le Mouel, Capucine Picard, Isabelle Andre, Marina Cavazzana, Laurence Perrin, Anne Durandy, Saba Azarnoush, Sven Kracker
Summary: APDS2 is a syndrome caused by mutations in the PIK3R1 gene, resulting in immune deficiency with variable clinical presentations including lymphoproliferation, increased susceptibility to infections, and autoimmune manifestations. In addition to immunological issues, patients with APDS2 may also experience growth retardation and neurodevelopmental delays.
FRONTIERS IN PEDIATRICS
(2021)
Article
Multidisciplinary Sciences
Baptiste Lamarthee, Armance Marchal, Soeli Charbonnier, Tifanie Blein, Juliette Leon, Emmanuel Martin, Lucas Rabaux, Katrin Vogt, Matthias Titeux, Marianne Delville, Helene Vincon, Emmanuelle Six, Nicolas Pallet, David Michonneau, Dany Anglicheau, Christophe Legendre, Jean-Luc Taupin, Ivan Nemazanyy, Birgit Sawitzki, Sylvain Latour, Marina Cavazzana, Isabelle Andre, Julien Zuber
Summary: The study demonstrates that 4-1BB CAR-Tregs show more dramatic effects in activation and proliferation than CD28 CAR-Tregs, but exhibit reduced in vivo suppressive capacities. Transient exposure to a Treg stabilizing cocktail can sharply improve the in vivo function and expansion of 4-1BB CAR-Tregs. These findings suggest that transient mTOR inhibition can mitigate the negative effects of 4-1BB tonic signaling in Tregs.
NATURE COMMUNICATIONS
(2021)
Correction
Biophysics
Isabelle Andre, Laura Simons, Kuiying Ma, Ranjita Devi Moirangthem, Jean-Sebastien Diana, Elisa Magrin, Chloe Couzin, Alessandra Magnani, Chantal Lagresle-Peyrou, Marina Cavazzana
BONE MARROW TRANSPLANTATION
(2022)
Review
Immunology
Pierre Gaudeaux, Ranjita Devi Moirangthem, Aurelie Bauquet, Laura Simons, Akshay Joshi, Marina Cavazzana, Olivier Negre, Shabi Soheili, Isabelle Andre
Summary: Allogeneic hematopoietic stem cell transplantation (HSCT) is a preferred treatment for various blood diseases. However, this approach is hindered by graft-versus-host disease (GvHD), infections, and relapses due to persistent T-cell immunodeficiency. One major challenge is to accelerate T-cell recovery and shorten the period of immune deficiency. Adoptive transfer of cell populations that can generate mature T cells faster than hematopoietic stem cells (HSCs) is of great interest. This review summarizes current advances in the characterization of thymus seeding progenitors and discusses the opportunities for T-cell progenitor-based therapy manufacturing.
FRONTIERS IN IMMUNOLOGY
(2022)
Meeting Abstract
Biotechnology & Applied Microbiology
Pierre Gaudeaux, Ranjita Devi Moirangthem, Marta Martin-Corredera, Akshay Joshi, Maria Emilia Puig Lombardi, Aurelien Corneau, Marieke Lavaert, Tom Taghon, Marina Cavazzana, Olivier Negre, Tayebeh Shabi Soheili, Isabelle Andre
Meeting Abstract
Biotechnology & Applied Microbiology
Marianne Delville, Florence Bellier, Roman Klifa, Sabrina Lizot, David Zemmour, Juliette Leon, Steicy Sobrino, Romane Thouenon, Armance Marchal, Alexandrine Garrigue, Soeli Charbonnier, Juliette Olivre, Axel Schambach, Mario Amendola, Chantal Lagresle, David Gross, Baptiste Lamarthee, Christophe Benoist, Julien Zuber, Marina Cavazzana, Isabelle Andre, Emmanuelle Sic
Meeting Abstract
Biotechnology & Applied Microbiology
Alessandra Magnani, Steicy Sobrino, Chloe Cousin, Loredana Martignetti, Michaela Semeraro, Elisa Magrin, Tayebeh Soheili, Aurelie Gabrion, Cecile Roudaut, Olivier Lortholary, Laura Barnabei, Caroline Tuchmann-Durand, Francois Lefrere, Isabelle Andre, Frederic Rieux-Laucat, Adrian J. Thrasher, Felipe Suarez, Ambroise Marcais, Anne Galy, Antonio Rausell, Stephane Blanche, Emmanuelle Six, Marina Cavazzana
