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

Autor: Isabelle Meyts, Christopher C. Dvorak, Morna J. Dorsey, Antonio Condino-Neto, Hassan Abolhassani, Rongras Damrongwatanasuk, Reinhard Seger, John M. Routes, Trudy N. Small, Hans D. Ochs, Maria Kanariou, Carsten Speckmann, Beatriz Tavares Costa Carvalho, J. David M. Edgar, Luis Ignacio Gonzalez-Granado, Andrew R. Gennery, Victor M. Aquino, M. Teresa de la Morena, Ramsay Fuleihan, Gisela Seminario, Nancy Bunin, Neena Kapoor, Chaim M. Roifman, Alan P. Knutsen, Helen Chapel, Jiri Litzman, Lisa Kobrynski, Liliana Bezrodnik, Anna Shcherbina, Teresa Espanol, Paul Gray, Francisco A. Bonilla, Janet Chou, Andrew J. Cant, Imelda C. Hanson, Luis Murguia-Favela, Troy R. Torgerson, Christian A. Wysocki, Fatima Dhalla, Mary Slatter, Eyal Grunebaum, Andrea C. Gómez Raccio, Necil Kutukculer, Jordan K. Abbott, David Leonard, Evangelia Farmaki, Joris M. van Montfrans, Srdjan Pasic, Sharat Chandra, Ales Janda, Luigi D. Notarangelo, Melanie Wong, Otavio Cabral-Marques, M.J. Cowan, Caroline Y. Kuo, Alexandra H. Filipovich, Asghar Aghamohammadi, John W. Sleasman, Darko Richter, Karin Chen, Suranjith L. Seneviratne, Charlotte Cunningham-Rundles, Daniela DiGiovanni
Přispěvatelé: Ege Üniversitesi
Jazyk: angličtina
Rok vydání: 2016
Předmět:
0301 basic medicine
Male
Allergy
medicine.medical_treatment
Hematopoietic stem cell transplantation
Kaplan-Meier Estimate
Hyper-IgM Immunodeficiency Syndrome
Cohort Studies
Karnofsky/Lansky scores
Immunology and Allergy
Child
Immunodeficiency
Pediatric
Hazard ratio
Hematopoietic Stem Cell Transplantation
Middle Aged
3. Good health
Multicenter Study
surgical procedures
operative
Child
Preschool
Female
CD40 ligand
defects in class-switch recombination
long-term outcomes
Cohort study
Adult
medicine.medical_specialty
Adolescent
Immunology
Observational Study
primary immunodeficiency
Article
Time
03 medical and health sciences
Young Adult
Clinical Research
Internal medicine
X-linked hyper-IgM syndrome
medicine
Journal Article
Humans
hematopoietic cell transplantation
Preschool
Proportional Hazards Models
Retrospective Studies
Transplantation
business.industry
Proportional hazards model
Inflammatory and immune system
Infant
Retrospective cohort study
medicine.disease
Surgery
030104 developmental biology
Good Health and Well Being
Primary immunodeficiency
business
DOENÇAS IMUNOLÓGICAS
Follow-Up Studies
Zdroj: The Journal of allergy and clinical immunology, vol 139, iss 4
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Allergy and Clinical Immunology, 139(4), 1282. Mosby Inc.
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
ISSN: 0091-6749
Popis: WOS: 000398771800023
PubMed ID: 27697500
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.
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 [U54 AI 082973, R13AI094943]
Supported by a grant from Jeffrey Modell Foundation (to M.d.l.M.). The Primary Immune Deficiency Treatment Consortium (PIDTC) is supported by the National Institutes of Health Office of Rare Diseases, National Center for Advancing Translational Sciences and National, Institute of Allergy and Infectious Disease grants U54 AI 082973 and R13AI094943.
Databáze: OpenAIRE
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