BACKGROUND: Primary immunodeficiency diseases (PID) are rare but have a high associated risk of death from overwhelming infection in early childhood. Stem cell transplantation (SCT) can be curative for PID, but standardized protocols for each disease have not yet been established. METHODS: Between May 1995 and May 2005, nine patients diagnosed with a PID received SCT at the Department of Pediatrics, Hokkaido University Hospital. The median age of the patients (eight boys and one girl) was 1.0 year (range: 6 months-4 years). Five patients had Wiskott-Aldrich syndrome (WAS), three had severe combined immunodeficiency (SCID), and one had X-linked hyper-IgM syndrome (X-HIGM). Four patients received bone marrow transplantation (BMT), and five received cord blood stem cell transplantation (CBSCT). All patients, including those with SCID, received a conditioning regimen: six (WAS and X-HIGM) received a myeloablative conditioning regimen, and three (SCID) received a reduced-intensity conditioning regimen. RESULTS: All the patients are alive and have stable, complete chimerism, based on a median follow-up period of 4 years. Moreover, all patients have good immune reconstitution, and none required immunoglobulin replacement therapy. Two patients had significant acute graft-versus-host disease (GVHD), and three patients had chronic GVHD. Four of the nine patients developed cytomegalovirus (CMV) infection after SCT. CONCLUSION: The transplantation procedures appear to have provided a permanent cure in nine PID patients. Early diagnosis and prompt performance of SCT with an optimal donor and conditioning regimen contributed to the favorable outcomes.
BACKGROUND:Primary immunodeficiency diseases (PID) are rare but have a high associated risk of death from overwhelming infection in early childhood. Stem cell transplantation (SCT) can be curative for PID, but standardized protocols for each disease have not yet been established. METHODS: Between May 1995 and May 2005, nine patients diagnosed with a PID received SCT at the Department of Pediatrics, Hokkaido University Hospital. The median age of the patients (eight boys and one girl) was 1.0 year (range: 6 months-4 years). Five patients had Wiskott-Aldrich syndrome (WAS), three had severe combined immunodeficiency (SCID), and one had X-linked hyper-IgM syndrome (X-HIGM). Four patients received bone marrow transplantation (BMT), and five received cord blood stem cell transplantation (CBSCT). All patients, including those with SCID, received a conditioning regimen: six (WAS and X-HIGM) received a myeloablative conditioning regimen, and three (SCID) received a reduced-intensity conditioning regimen. RESULTS: All the patients are alive and have stable, complete chimerism, based on a median follow-up period of 4 years. Moreover, all patients have good immune reconstitution, and none required immunoglobulin replacement therapy. Two patients had significant acute graft-versus-host disease (GVHD), and three patients had chronic GVHD. Four of the nine patients developed cytomegalovirus (CMV) infection after SCT. CONCLUSION: The transplantation procedures appear to have provided a permanent cure in nine PID patients. Early diagnosis and prompt performance of SCT with an optimal donor and conditioning regimen contributed to the favorable outcomes.
Authors: Joel Gallagher; Juan Adams; Mary Hintermeyer; Troy R Torgerson; Jesus Lopez-Guisa; Hans D Ochs; Sara Szabo; Mina Salib; James Verbsky; John Routes Journal: J Clin Immunol Date: 2016-06-20 Impact factor: 8.317
Authors: M Teresa de la Morena; David Leonard; Troy R Torgerson; Otavio Cabral-Marques; Mary Slatter; Asghar Aghamohammadi; Sharat Chandra; Luis Murguia-Favela; Francisco A Bonilla; Maria Kanariou; Rongras Damrongwatanasuk; Caroline Y Kuo; Christopher C Dvorak; Isabelle Meyts; Karin Chen; Lisa Kobrynski; Neena Kapoor; Darko Richter; Daniela DiGiovanni; Fatima Dhalla; Evangelia Farmaki; Carsten Speckmann; Teresa Español; Anna Shcherbina; Imelda Celine Hanson; Jiri Litzman; John M Routes; Melanie Wong; Ramsay Fuleihan; Suranjith L Seneviratne; Trudy N Small; Ales Janda; Liliana Bezrodnik; Reinhard Seger; Andrea Gomez Raccio; J David M Edgar; Janet Chou; Jordan K Abbott; Joris van Montfrans; Luis Ignacio González-Granado; Nancy Bunin; Necil Kutukculer; Paul Gray; Gisela Seminario; Srdjan Pasic; Victor Aquino; Christian Wysocki; Hassan Abolhassani; Morna Dorsey; Charlotte Cunningham-Rundles; Alan P Knutsen; John Sleasman; Beatriz Tavares Costa Carvalho; Antonio Condino-Neto; Eyal Grunebaum; Helen Chapel; Hans D Ochs; Alexandra Filipovich; Mort Cowan; Andrew Gennery; Andrew Cant; Luigi D Notarangelo; Chaim M Roifman Journal: J Allergy Clin Immunol Date: 2016-09-30 Impact factor: 10.793
Authors: Sherrie J Divito; Anders T Aasebø; Tiago R Matos; Pei-Chen Hsieh; Matthew Collin; Christopher P Elco; John T O'Malley; Espen S Bækkevold; Henrik Reims; Tobias Gedde-Dahl; Michael Hagerstrom; Jude Hilaire; John W Lian; Edgar L Milford; Geraldine S Pinkus; Vincent T Ho; Robert J Soiffer; Haesook T Kim; Martin C Mihm; Jerome Ritz; Indira Guleria; Corey S Cutler; Rachael A Clark; Frode L Jahnsen; Thomas S Kupper Journal: J Clin Invest Date: 2020-09-01 Impact factor: 14.808
Authors: John Routes; Mario Abinun; Waleed Al-Herz; Jacinta Bustamante; Antonio Condino-Neto; Maria Teresa De La Morena; Amos Etzioni; Eleonora Gambineri; Elie Haddad; Lisa Kobrynski; Francoise Le Deist; Shigeaki Nonoyama; Joao Bosco Oliveira; Elena Perez; Capucine Picard; Nima Rezaei; John Sleasman; Kathleen E Sullivan; Troy Torgerson Journal: J Clin Immunol Date: 2014-03-12 Impact factor: 8.542