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Wiskott-Aldrich Syn...
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
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Vallée, Tanja C (author)
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Glasmacher, Jannik S (author)
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Buchner, Hannes (author)
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Arkwright, Peter D (author)
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Behrends, Uta (author)
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Bondarenko, Anastasia (author)
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Browning, Michael J (author)
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Buchbinder, David K (author)
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Cattoni, Alessandro (author)
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Chernyshova, Liudmyla (author)
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Ciznar, Peter (author)
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Cole, Theresa (author)
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Czogala, Wojciech (author)
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Dueckers, Gregor (author)
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Edgar, John David M (author)
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Erbey, Fatih (author)
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- Fasth, Anders, 1945 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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Ferrua, Francesca (author)
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Formankova, Renata (author)
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Gambineri, Eleonora (author)
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Gennery, Andrew R (author)
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Goldman, Frederick D (author)
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Gonzalez-Granado, Luis Ignacio (author)
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Heilmann, Carsten (author)
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Heiskanen-Kosma, Tarja (author)
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Juntti, Hanna (author)
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Kainulainen, Leena (author)
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Kanegane, Hirokazu (author)
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Karaca, Neslihan E (author)
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Sebnem Kilic, Sara (author)
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Klein, Christoph (author)
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Koltan, Sylwia (author)
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Kondratenko, Irina (author)
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Meyts, Isabelle (author)
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Nasrullayeva, Gulnara M (author)
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Notarangelo, Lucia Dora (author)
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Pasic, Srdjan (author)
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Pellier, Isabelle (author)
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Pignata, Claudio (author)
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Misbah, Siraj Ahmed (author)
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Schulz, Ansgar S (author)
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Segundo, Gesmar Rs (author)
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Shcherbina, Anna (author)
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Slatter, Mary A (author)
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Sokolic, Robert (author)
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Soler-Palacin, Pere (author)
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Stepensky, Polina (author)
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van Montfrans, Joris M (author)
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Ryhänen, Samppa (author)
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Wolska-Kuśnierz, Beata (author)
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Ziegler, John B (author)
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Zhao, Xiaodong (author)
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Aiuti, Alessandro (author)
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Ochs, Hans D (author)
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Albert, Michael H (author)
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(creator_code:org_t)
- 2024
- 2024
- English.
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In: Blood. - 0006-4971 .- 1528-0020. ; 143:24, s. 2504-2516
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https://doi.org/10.1...
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Abstract
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- 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 (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% CI 78-87) at 15 years and 70% (61-80) at 30 years of age. The type of variant was predictive of outcome: patients with a missense variant in exons 1 or 2 or with the intronic hotspot 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 to 71% (62-81) and 48% (34-68) in patients with any other variant (class II; p<0.0001). The cumulative incidence rates of disease-related complications such as severe bleeding (p=0.007), life-threatening infection (p<0.0001), and autoimmunity (p=0.004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (p=0.6) was not different between classes I and II. This study represents the largest cohort of WAS patients studied so far. It confirms the spectrum of disease severity and quantifies the risk for specific disease-related complications. The class of variant is a biomarker to predict the outcome for WAS patients.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
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- art (subject category)
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Blood
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- By the author/editor
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Vallée, Tanja C
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Glasmacher, Jann ...
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Buchner, Hannes
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Arkwright, Peter ...
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Behrends, Uta
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Bondarenko, Anas ...
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show more...
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Browning, Michae ...
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Buchbinder, Davi ...
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Cattoni, Alessan ...
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Chernyshova, Liu ...
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Ciznar, Peter
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Cole, Theresa
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Czogala, Wojciec ...
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Dueckers, Gregor
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Edgar, John Davi ...
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Erbey, Fatih
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Fasth, Anders, 1 ...
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Ferrua, Francesc ...
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Formankova, Rena ...
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Gambineri, Eleon ...
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Gennery, Andrew ...
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Goldman, Frederi ...
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Gonzalez-Granado ...
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Heilmann, Carste ...
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Heiskanen-Kosma, ...
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Juntti, Hanna
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Kainulainen, Lee ...
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Kanegane, Hiroka ...
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Karaca, Neslihan ...
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Sebnem Kilic, Sa ...
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Klein, Christoph
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Koltan, Sylwia
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Kondratenko, Iri ...
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Meyts, Isabelle
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Nasrullayeva, Gu ...
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Notarangelo, Luc ...
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Pasic, Srdjan
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Pellier, Isabell ...
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Pignata, Claudio
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Misbah, Siraj Ah ...
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Schulz, Ansgar S
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Segundo, Gesmar ...
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Shcherbina, Anna
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Slatter, Mary A
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Sokolic, Robert
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Soler-Palacin, P ...
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Stepensky, Polin ...
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van Montfrans, J ...
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Ryhänen, Samppa
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Wolska-Kuśnierz, ...
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Ziegler, John B
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Zhao, Xiaodong
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Aiuti, Alessandr ...
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Ochs, Hans D
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Albert, Michael ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
- Articles in the publication
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Blood
- By the university
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University of Gothenburg