-
Je něco špatně v tomto záznamu ?
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival
TC. Vallée, JS. Glasmacher, H. Buchner, PD. Arkwright, U. Behrends, A. Bondarenko, MJ. Browning, D. Buchbinder, A. Cattoni, L. Chernyshova, P. Ciznar, T. Cole, W. Czogała, G. Dueckers, JDM. Edgar, F. Erbey, A. Fasth, F. Ferrua, R. Formankova, E....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, multicentrická studie
NLK
Free Medical Journals
od 1946 do Před 1 rokem
Freely Accessible Science Journals
od 1946 do Před 1 rokem
Open Access Digital Library
od 1946-01-01
Open Access Digital Library
od 1946-01-01
ROAD: Directory of Open Access Scholarly Resources
PubMed
38579284
DOI
10.1182/blood.2023021411
Knihovny.cz E-zdroje
- MeSH
- biologické markery MeSH
- dítě MeSH
- dospělí MeSH
- genotyp * MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- míra přežití MeSH
- mladiství MeSH
- mladý dospělý MeSH
- následné studie MeSH
- předškolní dítě MeSH
- prognóza MeSH
- protein Wiskottova-Aldrichova syndromu genetika MeSH
- retrospektivní studie MeSH
- stupeň závažnosti nemoci MeSH
- transplantace hematopoetických kmenových buněk MeSH
- Wiskottův-Aldrichův syndrom * genetika diagnóza terapie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
Wiskott-Aldrich syndrome (WAS) is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.9 years (range, 0.3-71.1), totaling 6118 patient-years, were included in this international retrospective study. Overall survival (OS) of the cohort (censored at HSCT or GT) was 82% (95% confidence interval, 78-87) at age 15 years and 70% (61-80) at 30 years. The type of variant was predictive of outcome: patients with a missense variant in exons 1 or 2 or with the intronic hot spot variant c.559+5G>A (class I variants) had a 15-year OS of 93% (89-98) and a 30-year OS of 91% (86-97), compared with 71% (62-81) and 48% (34-68) in patients with any other variant (class II; P < .0001). The cumulative incidence rates of disease-related complications such as severe bleeding (P = .007), life-threatening infection (P < .0001), and autoimmunity (P = .004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (P = .6) was not different between classes I and II. It confirms the spectrum of disease severity and quantifies the risk for specific disease-related complications. The class of the variant is a biomarker to predict the outcome for patients with WAS.
Azerbaijan Medical University Baku Azerbaijan
Bone Marrow Transplantation Department Hadassah Hebrew University Medical Center Jerusalem Israel
Centre de référence des déficits immunitaires primitifs CEREDIH CHU d'Angers Angers France
Children's Hospital School of Medicine Technical University Munich Munich Germany
Clinical Immunology John Radcliffe Hospital Oxford United Kingdom
Department of Allergy and Immunology The Royal Children's Hospital Melbourne Australia
Department of Haematology Oncology Anna Meyer University Children's Hospital Florence Italy
Department of Hematology Children's Hospital of Orange County Orange CA
Department of Immunology Children's Memorial Health Institute Warsaw Poland
Department of Immunology Mother and Child Health Care Institute of Serbia Belgrade Serbia
Department of Infection Immunity and Inflammation University of Leicester Leicester United Kingdom
Department of NEUROFARBA Section of Child's Health University of Florence Florence Italy
Department of Pediatric Hematology Oncology Koç University School of Medicine İstanbul Turkey
Department of Pediatrics Faculty of Medicine Comenius University Bratislava Slovakia
Department of Pediatrics Fondazione IRCCS San Gerardo dei Tintori Monza Italy
Department of Pediatrics Kuopio University Hospital Kuopio Finland
Department of Pediatrics The University of Alabama at Birmingham Birmingham AL
Department of Pediatrics University Hospitals Leuven Leuven Belgium
Department of Pediatrics University Medical Center Ulm Ulm Germany
Department of Translational Medical Science Section of Pediatrics Federico 2 University Napoli Italy
Helios Kliniken Krefeld Children's Hospital Krefeld Germany
Medical Direction Children's Hospital ASST Spedali Civili Brescia Italy
Pediatric Hematology Oncology Dr von Hauner University Children's Hospital Munich Germany
Pediatric Immunology and Rheumatology Bursa Uludag University School of Medicine Bursa Turkey
Russian Children's Clinical Hospital Pirogov National Research Medical University Moscow Russia
School of Medicine and Surgery University of Milano Bicocca Milan Italy
School of Women's and Children's Health University of New South Wales Sydney Australia
St James's Hospital and School of Medicine Trinity College Dublin Ireland
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc24013517
- 003
- CZ-PrNML
- 005
- 20240905133324.0
- 007
- ta
- 008
- 240725s2024 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1182/blood.2023021411 $2 doi
- 035 __
- $a (PubMed)38579284
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Vallée, Tanja C $u Pediatric Hematology/Oncology, Dr von Hauner University Children's Hospital, Munich, Germany
- 245 10
- $a Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival / $c TC. Vallée, JS. Glasmacher, H. Buchner, PD. Arkwright, U. Behrends, A. Bondarenko, MJ. Browning, D. Buchbinder, A. Cattoni, L. Chernyshova, P. Ciznar, T. Cole, W. Czogała, G. Dueckers, JDM. Edgar, F. Erbey, A. Fasth, F. Ferrua, R. Formankova, E. Gambineri, AR. Gennery, FD. Goldman, LI. Gonzalez-Granado, C. Heilmann, T. Heiskanen-Kosma, H. Juntti, L. Kainulainen, H. Kanegane, NE. Karaca, SS. Kilic, C. Klein, S. Kołtan, I. Kondratenko, I. Meyts, GM. Nasrullayeva, LD. Notarangelo, S. Pasic, I. Pellier, C. Pignata, S. Misbah, A. Schulz, GR. Segundo, A. Shcherbina, M. Slatter, R. Sokolic, P. Soler-Palacin, P. Stepensky, JM. van Montfrans, S. Ryhänen, B. Wolska-Kuśnierz, JB. Ziegler, X. Zhao, A. Aiuti, HD. Ochs, MH. Albert
- 520 9_
- $a Wiskott-Aldrich syndrome (WAS) is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.9 years (range, 0.3-71.1), totaling 6118 patient-years, were included in this international retrospective study. Overall survival (OS) of the cohort (censored at HSCT or GT) was 82% (95% confidence interval, 78-87) at age 15 years and 70% (61-80) at 30 years. The type of variant was predictive of outcome: patients with a missense variant in exons 1 or 2 or with the intronic hot spot variant c.559+5G>A (class I variants) had a 15-year OS of 93% (89-98) and a 30-year OS of 91% (86-97), compared with 71% (62-81) and 48% (34-68) in patients with any other variant (class II; P < .0001). The cumulative incidence rates of disease-related complications such as severe bleeding (P = .007), life-threatening infection (P < .0001), and autoimmunity (P = .004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (P = .6) was not different between classes I and II. It confirms the spectrum of disease severity and quantifies the risk for specific disease-related complications. The class of the variant is a biomarker to predict the outcome for patients with WAS.
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a dítě $7 D002648
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 12
- $a Wiskottův-Aldrichův syndrom $x genetika $x diagnóza $x terapie $7 D014923
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a retrospektivní studie $7 D012189
- 650 _2
- $a kojenec $7 D007223
- 650 _2
- $a mladý dospělý $7 D055815
- 650 12
- $a genotyp $7 D005838
- 650 _2
- $a biologické markery $7 D015415
- 650 _2
- $a transplantace hematopoetických kmenových buněk $7 D018380
- 650 _2
- $a stupeň závažnosti nemoci $7 D012720
- 650 _2
- $a protein Wiskottova-Aldrichova syndromu $x genetika $7 D051316
- 650 _2
- $a následné studie $7 D005500
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a prognóza $7 D011379
- 650 _2
- $a míra přežití $7 D015996
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a multicentrická studie $7 D016448
- 700 1_
- $a Glasmacher, Jannik S $u Pediatric Hematology/Oncology, Dr von Hauner University Children's Hospital, Munich, Germany
- 700 1_
- $a Buchner, Hannes $u Staburo GmbH, Munich, Germany $1 https://orcid.org/0000000293535535
- 700 1_
- $a Arkwright, Peter D $u Lydia Becker Institute of Immunology and Inflammation, The University of Manchester & Royal Manchester Children's Hospital, Manchester, United Kingdom
- 700 1_
- $a Behrends, Uta $u Children's Hospital, School of Medicine, Technical University Munich, Munich, Germany
- 700 1_
- $a Bondarenko, Anastasia $u Department of Pediatrics, Immunology, Infectious and Rare Diseases and Allergology, European Medical School, International European University, Kyiv, Ukraine $1 https://orcid.org/0000000297372868
- 700 1_
- $a Browning, Michael J $u Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, United Kingdom
- 700 1_
- $a Buchbinder, David $u Department of Hematology, Children's Hospital of Orange County, Orange, CA
- 700 1_
- $a Cattoni, Alessandro $u Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy $u School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy $1 https://orcid.org/0000000169336723
- 700 1_
- $a Chernyshova, Liudmyla $u Department of Pediatrics, Pediatric Infectious Diseases, Immunology and Allergology, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine
- 700 1_
- $a Ciznar, Peter $u Department of Pediatrics, Faculty of Medicine, Comenius University, Bratislava, Slovakia $1 https://orcid.org/0000000305661644 $7 xx0107895
- 700 1_
- $a Cole, Theresa $u Department of Allergy and Immunology, The Royal Children's Hospital, Melbourne, Australia
- 700 1_
- $a Czogała, Wojciech $u Department of Pediatric Oncology and Hematology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland $1 https://orcid.org/0000000295527889
- 700 1_
- $a Dueckers, Gregor $u Helios Kliniken Krefeld, Children's Hospital, Krefeld, Germany
- 700 1_
- $a Edgar, John David M $u St James's Hospital & School of Medicine, Trinity College, Dublin, Ireland
- 700 1_
- $a Erbey, Fatih $u Department of Pediatric Hematology/Oncology, Koç University School of Medicine, İstanbul, Turkey
- 700 1_
- $a Fasth, Anders $u Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden $1 https://orcid.org/000000020033740X
- 700 1_
- $a Ferrua, Francesca $u Pediatric Immunohematology and Stem Cell Program, San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy $1 https://orcid.org/0000000256954490
- 700 1_
- $a Formankova, Renata $u Department of Pediatric Hematology and Oncology, Charles University and University Hospital Motol, Prague, Czech Republic
- 700 1_
- $a Gambineri, Eleonora $u Department of NEUROFARBA, Section of Child's Health, University of Florence, Florence, Italy $u Department of Haematology-Oncology, Anna Meyer University Children's Hospital (AOU Meyer IRCCS), Florence, Italy
- 700 1_
- $a Gennery, Andrew R $u Translational and Clinical Research Institute, Newcastle University, and Paediatric Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom
- 700 1_
- $a Goldman, Frederick D $u Department of Pediatrics, The University of Alabama at Birmingham, Birmingham, AL
- 700 1_
- $a Gonzalez-Granado, Luis I $u Department of Pediatrics, Primary Immunodeficiencies Unit, Research Institute, Hospital 12 Octubre, School of Medicine, Complutense University of Madrid, Madrid, Spain $1 https://orcid.org/0000000169178980
- 700 1_
- $a Heilmann, Carsten $u Department for Children and Adolescents, Pediatric Hematopoietic Stem Cell Transplantation and Immunodeficiency, Copenhagen University Hospital Rigshospitalet, København, Denmark
- 700 1_
- $a Heiskanen-Kosma, Tarja $u Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland $1 https://orcid.org/0000000179927375
- 700 1_
- $a Juntti, Hanna $u Department of Pediatrics and Adolescent Medicine, Oulu University Hospital and Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland
- 700 1_
- $a Kainulainen, Leena $u Division of Pediatric Hematology and Oncology, Department of Pediatrics, Turku University Hospital, Turku, Finland $1 https://orcid.org/0000000277763626
- 700 1_
- $a Kanegane, Hirokazu $u Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan $1 https://orcid.org/0000000286969378
- 700 1_
- $a Karaca, Neslihan E $u Division of Pediatric Immunology, Department of Pediatrics, Ege University, The Medical School, Izmir, Turkey
- 700 1_
- $a Kilic, Sara S $u Pediatric Immunology and Rheumatology, Bursa Uludag University School of Medicine, Bursa, Turkey $1 https://orcid.org/0000000185712581
- 700 1_
- $a Klein, Christoph $u Pediatric Hematology/Oncology, Dr von Hauner University Children's Hospital, Munich, Germany
- 700 1_
- $a Kołtan, Sylwia $u Department of Paediatrics, Haematology and Oncology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland $1 https://orcid.org/0000000176636580
- 700 1_
- $a Kondratenko, Irina $u Russian Children's Clinical Hospital, Pirogov National Research Medical University, Moscow, Russia $1 https://orcid.org/0000000348344075
- 700 1_
- $a Meyts, Isabelle $u Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium
- 700 1_
- $a Nasrullayeva, Gulnara M $u Azerbaijan Medical University, Baku, Azerbaijan $1 https://orcid.org/0000000161568888
- 700 1_
- $a Notarangelo, Lucia D $u Medical Direction, Children's Hospital, ASST Spedali Civili, Brescia, Italy
- 700 1_
- $a Pasic, Srdjan $u Department of Immunology, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia $1 https://orcid.org/0000000177610024
- 700 1_
- $a Pellier, Isabelle $u Centre de référence des déficits immunitaires primitifs CEREDIH, CHU d'Angers, Angers, France $1 https://orcid.org/0000000279884712
- 700 1_
- $a Pignata, Claudio $u Department of Translational Medical Science, Section of Pediatrics, Federico II University, Napoli, Italy
- 700 1_
- $a Misbah, Siraj $u Clinical Immunology, John Radcliffe Hospital, Oxford, United Kingdom $1 https://orcid.org/0000000315258795
- 700 1_
- $a Schulz, Ansgar $u Department of Pediatrics, University Medical Center Ulm, Ulm, Germany $1 https://orcid.org/0000000277987996
- 700 1_
- $a Segundo, Gesmar R $u Allergy and Immunology Division, Pediatrics Department, Universidade Federal de Uberlândia, Uberlândia, Brazil
- 700 1_
- $a Shcherbina, Anna $u Dmitry Rogachev National Research and Clinical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
- 700 1_
- $a Slatter, Mary $u Translational and Clinical Research Institute, Newcastle University, and Paediatric Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom
- 700 1_
- $a Sokolic, Robert $u Hematologic Malignancies Branch, Office of Therapeutic Products, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, MD $1 https://orcid.org/0000000233997893
- 700 1_
- $a Soler-Palacin, Pere $u Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain $1 https://orcid.org/0000000203465570
- 700 1_
- $a Stepensky, Polina $u Bone Marrow Transplantation Department, Hadassah-Hebrew, University Medical Center, Jerusalem, Israel
- 700 1_
- $a van Montfrans, Joris M $u Department of Pediatric Immunology and Infectious Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands
- 700 1_
- $a Ryhänen, Samppa $u Children's Hospital, University of Helsinki and Helsinki University Hospital, Pediatric Research Center, Helsinki, Finland $1 https://orcid.org/000000034431643X
- 700 1_
- $a Wolska-Kuśnierz, Beata $u Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland
- 700 1_
- $a Ziegler, John B $u School of Women's & Children's Health, University of New South Wales, Sydney, Australia
- 700 1_
- $a Zhao, Xiaodong $u Department of Rheumatism and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China $u Vita-Salute San Raffaele University, Milan, Italy
- 700 1_
- $a Aiuti, Alessandro $u Pediatric Immunohematology and Stem Cell Program, San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy
- 700 1_
- $a Ochs, Hans D $u University of Washington School of Medicine, Seattle, WA
- 700 1_
- $a Albert, Michael H $u Pediatric Hematology/Oncology, Dr von Hauner University Children's Hospital, Munich, Germany $1 https://orcid.org/0000000191433263
- 773 0_
- $w MED00000807 $t Blood $x 1528-0020 $g Roč. 143, č. 24 (2024), s. 2504-2516
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/38579284 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y - $z 0
- 990 __
- $a 20240725 $b ABA008
- 991 __
- $a 20240905133318 $b ABA008
- 999 __
- $a ok $b bmc $g 2143372 $s 1225383
- BAS __
- $a 3
- BAS __
- $a PreBMC-MEDLINE
- BMC __
- $a 2024 $b 143 $c 24 $d 2504-2516 $e 20240613 $i 1528-0020 $m Blood $n Blood $x MED00000807
- LZP __
- $a Pubmed-20240725
