J 2017

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

MORENA, M. Teresa de la, David LEONARD, Troy R. TORGERSON, Otavio CABRAL-MARQUES, Mary SLATTER et. al.

Základní údaje

Originální název

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

Autoři

MORENA, M. Teresa de la (840 Spojené státy), David LEONARD (840 Spojené státy), Troy R. TORGERSON (840 Spojené státy), Otavio CABRAL-MARQUES (276 Německo), Mary SLATTER (826 Velká Británie a Severní Irsko), Asghar AGHAMOHAMMADI (364 Írán), Sharat CHANDRA (840 Spojené státy), Luis MURGUIA-FAVELA (124 Kanada), Francisco A. BONILLA (840 Spojené státy), Maria KANARIOU (840 Spojené státy), Rongras DAMRONGWATANASUK (840 Spojené státy), Caroline Y. KUO (840 Spojené státy), Chistopher C. DVORAK (840 Spojené státy), Isabelle MEYTS (276 Německo), Karin CHEN (840 Spojené státy), Lisa KOBRYNSKI (840 Spojené státy), Neena KAPOOR (840 Spojené státy), Darko RICHTER (191 Chorvatsko), Daniela DIGIOVANNI (32 Argentina), Fatima DHALLA (826 Velká Británie a Severní Irsko), Evangelia FARMAKI (300 Řecko), Carsten SPECKMANN (276 Německo), Teresa ESPANOL (724 Španělsko), Anna SHCHERBINA (643 Rusko), Imelda HANSON (840 Spojené státy), Jiří LITZMAN (203 Česká republika, garant, domácí), John M. ROUTES (840 Spojené státy), Melanie WONG (36 Austrálie), Ramsay FULEIHAN (840 Spojené státy), Suranjith SENEVIRATNE (826 Velká Británie a Severní Irsko), Trudy N. SMALL (840 Spojené státy), Ales JANDA (203 Česká republika), Liliana BEZRODNIK (372 Irsko), Reinhard SEGER (372 Irsko), Andrea Gomez RACCIO (372 Irsko), J. David M. EDGAR (372 Irsko), Janet CHOU (840 Spojené státy), Jordan K. ABBOTT (840 Spojené státy), Joris van MONTFRANS (528 Nizozemské království), Luis Ignacio GONZALEZ-GRANADO (724 Španělsko), Nancy BUNIN (840 Spojené státy), Necil KUTUKCULER (792 Turecko), Paul GRAY (36 Austrálie), Gisela SEMINARIO (688 Srbsko), Srdjan PASIC (688 Srbsko), Victor AQUINO (840 Spojené státy), Christian WYSOCKI (840 Spojené státy), Hassan ABOLHASSANI (840 Spojené státy), Morna DORSEY (840 Spojené státy), Charlotte CUNNINGHAM-RUNDLES (840 Spojené státy), Alan KNUTSEN (840 Spojené státy), John SLEASMAN (840 Spojené státy), Beatriz Tavares Costa CARVALHO (76 Brazílie), Antonio CONDINO-NETO (76 Brazílie), Eyal GRUNEBAUM (840 Spojené státy), Helen CHAPEL (840 Spojené státy), Hans D. OCHS (840 Spojené státy), Alexandra FILIPOVICH (840 Spojené státy), Mort COWAN (840 Spojené státy), Andrew GENNERY (840 Spojené státy), Andrew CANT (840 Spojené státy), Luigi D. NOTARANGELO (840 Spojené státy) a Chaim M. ROIFMAN (840 Spojené státy)

Vydání

Journal of allergy and clinical immunology, New York, Mosby-Elsevier, 2017, 0091-6749

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 13.258

Kód RIV

RIV/00216224:14110/17:00096613

Organizační jednotka

Lékařská fakulta

UT WoS

000398771800023

Klíčová slova anglicky

X-linked hyper-IgM syndrome; CD40 ligand; hematopoietic cell transplantation; defects in class-switch recombination; long-term outcomes; primary immunodeficiency; Karnofsky/Lansky scores

Štítky

Příznaky

Mezinárodní význam, Recenzováno
Změněno: 21. 3. 2018 16:47, Soňa Böhmová

Anotace

V originále

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.