Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

Author de la Morena, M. Teresa Google Scholar
Leonard, David Google Scholar
Torgerson, Troy R. Google Scholar
Cabral-Marques, Otavio Google Scholar
Slatter, Mary Google Scholar
Aghamohammadi, Asghar Google Scholar
Chandra, Sharat Google Scholar
Murguia-Favela, Luis Google Scholar
Bonilla, Francisco A. Google Scholar
Kanariou, Maria Google Scholar
Damrongwatanasuk, Rongras Google Scholar
Kuo, Caroline Y. Google Scholar
Dvorak, Christopher C. Google Scholar
Meyts, Isabelle Google Scholar
Chen, Karin Google Scholar
Kobrynski, Lisa Google Scholar
Kapoor, Neena Google Scholar
Richter, Darko Google Scholar
DiGiovanni, Daniela Google Scholar
Dhalla, Fatima Google Scholar
Farmaki, Evangelia Google Scholar
Speckmann, Carsten Google Scholar
Espanol, Teresa Google Scholar
Shcherbina, Anna Google Scholar
Hanson, Imelda Celine Google Scholar
Litzman, Jiri Google Scholar
Routes, John M. Google Scholar
Wong, Melanie Google Scholar
Fuleihan, Ramsay Google Scholar
Seneviratne, Suranjith L. Google Scholar
Small, Trudy N. Google Scholar
Janda, Ales Google Scholar
Bezrodnik, Liliana Google Scholar
Seger, Reinhard Google Scholar
Raccio, Andrea Gomez Google Scholar
Edgar, J. David M. Google Scholar
Chou, Janet Google Scholar
Abbott, Jordan K. Google Scholar
van Montfrans, Joris Google Scholar
Gonzalez-Granado, Luis Ignacio Google Scholar
Bunin, Nancy Google Scholar
Kutukculer, Necil Google Scholar
Gray, Paul Google Scholar
Seminario, Gisela Google Scholar
Pasic, Srdjan Google Scholar
Aquino, Victor Google Scholar
Wysocki, Christian Google Scholar
Abolhassani, Hassan Google Scholar
Dorsey, Morna Google Scholar
Cunningham-Rundles, Charlotte Google Scholar
Knutsen, Alan P. Google Scholar
Sleasman, John Google Scholar
Carvalho, Beatriz Tavares Costa Autor UNIFESP Google Scholar
Condino-Neto, Antonio Google Scholar
Grunebaum, Eyal Google Scholar
Chapel, Helen Google Scholar
Ochs, Hans D. Google Scholar
Filipovich, Alexandra Google Scholar
Cowan, Mort Google Scholar
Gennery, Andrew Google Scholar
Cant, Andrew Google Scholar
Notarangelo, Luigi D. Google Scholar
Roifman, Chaim M. Google Scholar
Abstract Background: X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects. Hematopoietic cell transplantation (HCT) has been considered a curative therapy, but the procedure has inherent complications and might not be available for all patients. Objectives: We sought to collect data on the clinical presentation, treatment, and follow-up of a large sample of patients with XHIGM to (1) compare long-term overall survival and general well-being of patients treated with or without HCT along with clinical factors associated with mortality and (2) summarize clinical practice and risk factors in the subgroup of patients treated with HCT. Methods: Physicians caring for patients with primary immunodeficiency diseases were identified through the Jeffrey Modell Foundation, United States Immunodeficiency Network, Latin American Society for Immunodeficiency, and Primary Immune Deficiency Treatment Consortium. Data were collected with a Research Electronic Data Capture Web application. Survival from time of diagnosis or transplantation was estimated by using the Kaplan-Meier method compared with log-rank tests and modeled by using proportional hazards regression. Results: Twenty-eight clinical sites provided data on 189 patients given a diagnosis of XHIGM between 1964 and 2013

176 had valid follow-up and vital status information. Sixty-seven (38%) patients received HCT. The average follow-up time was 8.5 +/- 7.2 years (range, 0.1-36.2 years). No difference in overall survival was observed between patients treated with or without HCT (P = .671). However, risk associated with HCT decreased for diagnosis years 1987-1995

the hazard ratio was significantly less than 1 for diagnosis years 1995-1999. Liver disease was a significant predictor of overall survival (hazard ratio, 4.9

95% confidence limits, 2.2-10.8

P < .001). Among survivors, those treated with HCT had higher median Karnofsky/Lansky scores than those treated without HCT (P < .001). Among patients receiving HCT, 27 (40%) had graft-versus-host disease, and most deaths occurred within 1 year of transplantation. Conclusion: No difference in survival was observed between patients treated with or without HCT across all diagnosis years (1964-2013). However, survivors treated with HCT experienced somewhat greater well-being, and hazards associated with HCT decreased, reaching levels of significantly less risk in the late 1990s. Among patients treated with HCT, treatment at an early age is associated with improved survival. Optimism remains guarded as additional evidence accumulates.
Keywords X-linked hyper-IgM syndrome
CD40 ligand
hematopoietic cell transplantation
defects in class-switch recombination
long-term outcomes
primary immunodeficiency
Karnofsky/Lansky scores
xmlui.dri2xhtml.METS-1.0.item-coverage New York
Language English
Sponsor Jeffrey Modell Foundation
National Institutes of Health Office of Rare Diseases, National Center for Advancing Translational Sciences and National, Institute of Allergy and Infectious Disease
Grant number National Institutes of Health Office of Rare Diseases, National Center for Advancing Translational Sciences and National, Institute of Allergy and Infectious Disease: U54 AI 082973
National Institutes of Health Office of Rare Diseases, National Center for Advancing Translational Sciences and National, Institute of Allergy and Infectious Disease: R13AI094943
Date 2017
Published in Journal Of Allergy And Clinical Immunology. New York, v. 139, n. 4, p. 1282-1292, 2017.
ISSN 0091-6749 (Sherpa/Romeo, impact factor)
Publisher Mosby-Elsevier
Extent 1282-1292
Origin http://dx.doi.org/10.1016/j.jaci.2016.07.039
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000398771800023
URI https://repositorio.unifesp.br/handle/11600/54866

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