Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

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dc.citation.issue12
dc.citation.volume130
dc.contributor.authorMiot, Charline
dc.contributor.authorImai, Kohsuke
dc.contributor.authorImai, Chihaya
dc.contributor.authorMancini, Anthony J.
dc.contributor.authorKucuk, Zeynep Yesim
dc.contributor.authorKawai, Tokomki
dc.contributor.authorNishikomori, Ryuta
dc.contributor.authorIto, Etsuro
dc.contributor.authorPellier, Isabelle
dc.contributor.authorGirod, Sophie Dupuis
dc.contributor.authorRosain, Jeremie
dc.contributor.authorSasaki, Shinya
dc.contributor.authorChandrakasan, Shanmuganathan
dc.contributor.authorSchmid, Jana Pachlopnik
dc.contributor.authorOkano, Tsubasa
dc.contributor.authorColin, Estelle
dc.contributor.authorOlaya-Vargas, Alberto
dc.contributor.authorYamazaki-Nakashimada, Marco
dc.contributor.authorQasim, Waseem
dc.contributor.authorEspinosa Padilla, Sara
dc.contributor.authorJones, Andrea
dc.contributor.authorKrol, Alfons
dc.contributor.authorCole, Nyree
dc.contributor.authorJolles, Stephen
dc.contributor.authorBleesing, Jack
dc.contributor.authorVraetz, Thomas
dc.contributor.authorGennery, Andrew R.
dc.contributor.authorAbinun, Mario
dc.contributor.authorGungor, Tayfun
dc.contributor.authorCosta-Carvalho, Beatriz [UNIFESP]
dc.contributor.authorCondino-Neto, Antonio [UNIFESP]
dc.contributor.authorVeys, Paul
dc.contributor.authorHolland, Steven M.
dc.contributor.authorUzel, Gulbu
dc.contributor.authorMoshous, Despina
dc.contributor.authorNeven, Benedicte
dc.contributor.authorBlanche, Stephane
dc.contributor.authorEhl, Stephan
dc.contributor.authorDoffinger, Rainer
dc.contributor.authorPatel, Smita Y.
dc.contributor.authorPuel, Anne
dc.contributor.authorBustamante, Jacinta
dc.contributor.authorGelfand, Erwin W.
dc.contributor.authorCasanova, Jean-Laurent
dc.contributor.authorOrange, Jordan S.
dc.contributor.authorPicard, Capucine
dc.coverageWashington
dc.date.accessioned2020-08-04T13:40:11Z
dc.date.available2020-08-04T13:40:11Z
dc.date.issued2017
dc.description.abstractX-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor kappa B essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases. Here, we report the health status before HSCT, transplantation outcome, and clinical follow-up for a series of 29 patients from unrelated kindreds from 11 countries. Between them, these patients carry 23 different hypomorphic IKBKG mutations. HSCT was performed from HLA-identical related donors (n = 7), HLA-matched unrelated donors (n = 12), HLA-mismatched unrelated donors (n = 8), and HLA-haploidentical related donors (n = 2). Engraftmentwas documented in 24 patients, and graft-versus-host disease in 13 patients. Up to 7 patients died 0.2 to 12 months after HSCT. The global survival rate after HSCT among NEMO-deficient children was 74% at a median follow-up after HSCT of 57months (range, 4-108 months). Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. The underlyingmutation does not appear to have any influence, as patients with the same mutation had different outcomes. Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations.en
dc.description.affiliationNecker Hosp Sick Children, AP HP, Study Ctr Immunodeficiencies, Paris, France
dc.description.affiliationTokyo Med & Dent Univ, Dept Pediat & Dev Biol, Tokyo, Japan
dc.description.affiliationNiigata Univ, Grad Sch Med & Dent Sci, Dept Pediat, Niigata, Japan
dc.description.affiliationAnn & Robert H Lurie Childrens Hosp Chicago, Div Pediat Dermatol, Chicago, IL 60611 USA
dc.description.affiliationNorthwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA
dc.description.affiliationCincinnati Childrens Hosp, Med Ctr, Bone Marrow Transplantat & Immune Deficiency, Cincinnati, OH USA
dc.description.affiliationKyoto Univ, Grad Sch Med, Dept Pediat, Kyoto, Japan
dc.description.affiliationHirosaki Univ, Grad Sch Med, Dept Pediat, Hirosaki, Aomori, Japan
dc.description.affiliationUniv Hosp, Pediat Oncohematoimmunol Unit, Angers, France
dc.description.affiliationUniv Lyon 1, Sch Med, Genet Unit, Hosp Civils Lyon, Bron, France
dc.description.affiliationEmory Univ, Dept Pediat, Div Bone Marrow Transplant, Aflac Canc & Blood Disorders Ctr Childrens Hlth, Atlanta, GA 30322 USA
dc.description.affiliationUniv Zurich, Univ Childrens Hosp Zurich, Div Stem Cell Transplantat, Zurich, Switzerland
dc.description.affiliationUniv Hosp, Dept Biochem & Genet, Angers, France
dc.description.affiliationNatl Inst Pediat, Clin Immunol Dept, Mexico City, DF, Mexico
dc.description.affiliationNatl Inst Pediat, Program Hematopoiet Stem Cell Transplantat, Mexico City, DF, Mexico
dc.description.affiliationUCL, Great Ormond St Inst Child Hlth, London, England
dc.description.affiliationNatl Jewish Hlth, Dept Pediat, Immunodeficiency Diag & Treatment Program, Denver, CO USA
dc.description.affiliationOregon Hlth & Sci Univ, Dept Pediat Dermatol, Portland, OR 97201 USA
dc.description.affiliationStarship Hosp, Starship Blood & Canc Ctr, Paediat Haematol, Auckland, New Zealand
dc.description.affiliationUniv Wales Hosp, Immunodeficiency Ctr Wales, Cardiff, S Glam, Wales
dc.description.affiliationUniv Freiburg, Ctr Chron Immunodeficiency, Freiburg, Germany
dc.description.affiliationNewcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne, Tyne & Wear, England
dc.description.affiliationNewcastle Tyne Hosp NHS Fdn Trust, Great North Childrens Hosp, Paediat Immunol Dept, Newcastle Upon Tyne, Tyne & Wear, England
dc.description.affiliationUniv Fed Sao Paulo, Inst Biomed Sci, Dept Pediat, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil
dc.description.affiliationGreat Ormond St Hosp Children NHS Fdn Trust, Blood & Marrow Transplant Unit, London, England
dc.description.affiliationNIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA
dc.description.affiliationNIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA
dc.description.affiliationParis Descartes Univ, Imagine Inst, Paris, France
dc.description.affiliationNecker Hosp Sick Children, AP HP, Pediat Hematol Immunol & Rheumatol Unit, Paris, France
dc.description.affiliationCambridge Biomed Res Ctr, Natl Inst Hlth Res, Cambridge, England
dc.description.affiliationOxford Univ Hosp NHS Fdn Trust, Natl Inst Hlth Res, Oxford Biomed Res Ctr, Oxford, England
dc.description.affiliationNecker Hosp Sick Children, INSERM, UMR1163, Lab Human Genet Infect Dis,Necker Branch, Paris, France
dc.description.affiliationRockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA
dc.description.affiliationHoward Hughes Med Inst, New York, NY USA
dc.description.affiliationTexas Childrens Hosp, Baylor Coll Med, Sect Immunol Allergy & Rheumatol, Ctr Human Immunobiol, Houston, TX 77030 USA
dc.description.affiliationUnifespUniv Fed Sao Paulo, Inst Biomed Sci, Dept Pediat, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipSt. Giles Foundation
dc.description.sponsorshipRockefeller University
dc.description.sponsorshipINSERM
dc.description.sponsorshipParis Descartes University
dc.description.sponsorshipCentre de Reference des Deficits Immunitaires Hereditaires (CEREDIH)
dc.description.sponsorshipGerman Ministry for Education and Research
dc.description.sponsorshipNational Institute for Health Research and GOSH Biomedical Research Centre
dc.description.sponsorshipRobert A. Good/Jeffrey Modell Fellowship
dc.format.extent1456-1467
dc.identifierhttp://dx.doi.org/10.1182/blood-2017-03-771600
dc.identifier.citationBlood. Washington, v. 130, n. 12, p. 1456-1467, 2017.
dc.identifier.doi10.1182/blood-2017-03-771600
dc.identifier.issn0006-4971
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/57349
dc.identifier.wosWOS:000411319700012
dc.language.isoeng
dc.publisherAmer Soc Hematology
dc.relation.ispartofBlood
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.titleHematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutationsen
dc.typeinfo:eu-repo/semantics/article
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