Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.
Identifieur interne : 008D44 ( Ncbi/Merge ); précédent : 008D43; suivant : 008D45Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.
Auteurs : Intan Juliana Abd Hamid [Royaume-Uni] ; Mary A. Slatter [Royaume-Uni] ; Fiona Mckendrick ; Mark S. Pearce [Royaume-Uni] ; Andrew R. Gennery [Royaume-Uni]Source :
- Blood [ 1528-0020 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Allogreffes, Antigènes CD (génétique), Antigènes CD (immunologie), Chimère obtenue par transplantation (génétique), Chimère obtenue par transplantation (immunologie), Enfant, Enfant d'âge préscolaire, Facteurs temps, Femelle, Humains, Immunodéficience combinée grave (), Immunodéficience combinée grave (génétique), Immunodéficience combinée grave (immunologie), Immunodéficience combinée grave (mortalité), Janus kinase 3, Lymphocytes T (immunologie), Mâle, Qualité de vie, Sous-unité gamma commune aux récepteurs des interleukines (génétique), Survie sans rechute, Taux de survie, Transplantation de cellules souches hématopoïétiques, Études de suivi, Études rétrospectives.
- MESH :
- génétique : Antigènes CD, Chimère obtenue par transplantation, Immunodéficience combinée grave, Sous-unité gamma commune aux récepteurs des interleukines.
- immunologie : Antigènes CD, Chimère obtenue par transplantation, Immunodéficience combinée grave, Lymphocytes T.
- mortalité : Immunodéficience combinée grave.
- Adolescent, Adulte, Allogreffes, Enfant, Enfant d'âge préscolaire, Facteurs temps, Femelle, Humains, Immunodéficience combinée grave, Janus kinase 3, Mâle, Qualité de vie, Survie sans rechute, Taux de survie, Transplantation de cellules souches hématopoïétiques, Études de suivi, Études rétrospectives.
English descriptors
- KwdEn :
- Adolescent, Adult, Allografts, Antigens, CD (genetics), Antigens, CD (immunology), Child, Child, Preschool, Disease-Free Survival, Female, Follow-Up Studies, Hematopoietic Stem Cell Transplantation, Humans, Interleukin Receptor Common gamma Subunit (genetics), Janus Kinase 3, Male, Quality of Life, Retrospective Studies, Severe Combined Immunodeficiency (genetics), Severe Combined Immunodeficiency (immunology), Severe Combined Immunodeficiency (mortality), Severe Combined Immunodeficiency (therapy), Survival Rate, T-Lymphocytes (immunology), Time Factors, Transplantation Chimera (genetics), Transplantation Chimera (immunology).
- MESH :
- chemical , genetics : Antigens, CD, Interleukin Receptor Common gamma Subunit.
- chemical , immunology : Antigens, CD.
- genetics : Severe Combined Immunodeficiency, Transplantation Chimera.
- immunology : Severe Combined Immunodeficiency, T-Lymphocytes, Transplantation Chimera.
- mortality : Severe Combined Immunodeficiency.
- therapy : Severe Combined Immunodeficiency.
- Adolescent, Adult, Allografts, Child, Child, Preschool, Disease-Free Survival, Female, Follow-Up Studies, Hematopoietic Stem Cell Transplantation, Humans, Janus Kinase 3, Male, Quality of Life, Retrospective Studies, Survival Rate, Time Factors.
Abstract
Hematopoietic stem cell transplantation (HSCT) cures the T-lymphocyte, B-lymphocyte, and natural killer (NK)-cell differentiation defect in interleukin-2 γ-chain receptor (IL2RG)/JAK3 severe combined immunodeficiency (SCID). We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism, and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. Clinical data were collated and patients/families answered PedsQL Generic Core Scale v4.0 questionnaires. We performed longitudinal analyses of CD3(+), CD4(+) naive T-lymphocyte, CD19(+), and NK-cell numbers from pretransplant until 15 years posttransplant. Thirty-one of 43 patients (72%) survived. Median age at last follow-up was 10 years (range, 2-25 years). Twenty-one (68%) had persistent medical issues, mainly ongoing immunoglobulin replacement (14; 45%), cutaneous viral warts (7; 24%), short stature (4; 14%), limb lymphoedema (3; 10%), and bronchiectasis (2; 7%). Lung function was available and normal for 6 patients. Longitudinal analysis demonstrated sustained CD3(+), CD19(+), and NK-cell output 15 years post-HSCT. CD4(+) naive lymphocyte numbers were better in conditioned vs unconditioned recipients (P, .06). B-lymphocyte and myeloid chimerism were highly correlated (ρ, 0.98; P < .001). Low-toxicity myeloablative conditioning recipients have better B-lymphocyte/myeloid chimerism and are free from immunoglobulin replacement therapy. IL2RG/JAK3 SCID survivors free from immunoglobulin replacement have normal QoL.
DOI: 10.1182/blood-2016-11-748616
PubMed: 28209722
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000357
- to stream PubMed, to step Curation: 000357
- to stream PubMed, to step Checkpoint: 000357
Links to Exploration step
pubmed:28209722Le document en format XML
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<front><div type="abstract" xml:lang="en">Hematopoietic stem cell transplantation (HSCT) cures the T-lymphocyte, B-lymphocyte, and natural killer (NK)-cell differentiation defect in interleukin-2 γ-chain receptor (IL2RG)/JAK3 severe combined immunodeficiency (SCID). We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism, and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. Clinical data were collated and patients/families answered PedsQL Generic Core Scale v4.0 questionnaires. We performed longitudinal analyses of CD3(+), CD4(+) naive T-lymphocyte, CD19(+), and NK-cell numbers from pretransplant until 15 years posttransplant. Thirty-one of 43 patients (72%) survived. Median age at last follow-up was 10 years (range, 2-25 years). Twenty-one (68%) had persistent medical issues, mainly ongoing immunoglobulin replacement (14; 45%), cutaneous viral warts (7; 24%), short stature (4; 14%), limb lymphoedema (3; 10%), and bronchiectasis (2; 7%). Lung function was available and normal for 6 patients. Longitudinal analysis demonstrated sustained CD3(+), CD19(+), and NK-cell output 15 years post-HSCT. CD4(+) naive lymphocyte numbers were better in conditioned vs unconditioned recipients (P, .06). B-lymphocyte and myeloid chimerism were highly correlated (ρ, 0.98; P < .001). Low-toxicity myeloablative conditioning recipients have better B-lymphocyte/myeloid chimerism and are free from immunoglobulin replacement therapy. IL2RG/JAK3 SCID survivors free from immunoglobulin replacement have normal QoL.</div>
</front>
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<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28209722</PMID>
<DateCreated><Year>2017</Year>
<Month>02</Month>
<Day>17</Day>
</DateCreated>
<DateCompleted><Year>2017</Year>
<Month>04</Month>
<Day>28</Day>
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<Month>04</Month>
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<Issue>15</Issue>
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<Month>Apr</Month>
<Day>13</Day>
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<Title>Blood</Title>
<ISOAbbreviation>Blood</ISOAbbreviation>
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<ArticleTitle>Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.</ArticleTitle>
<Pagination><MedlinePgn>2198-2201</MedlinePgn>
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<ELocationID EIdType="doi" ValidYN="Y">10.1182/blood-2016-11-748616</ELocationID>
<Abstract><AbstractText>Hematopoietic stem cell transplantation (HSCT) cures the T-lymphocyte, B-lymphocyte, and natural killer (NK)-cell differentiation defect in interleukin-2 γ-chain receptor (IL2RG)/JAK3 severe combined immunodeficiency (SCID). We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism, and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. Clinical data were collated and patients/families answered PedsQL Generic Core Scale v4.0 questionnaires. We performed longitudinal analyses of CD3(+), CD4(+) naive T-lymphocyte, CD19(+), and NK-cell numbers from pretransplant until 15 years posttransplant. Thirty-one of 43 patients (72%) survived. Median age at last follow-up was 10 years (range, 2-25 years). Twenty-one (68%) had persistent medical issues, mainly ongoing immunoglobulin replacement (14; 45%), cutaneous viral warts (7; 24%), short stature (4; 14%), limb lymphoedema (3; 10%), and bronchiectasis (2; 7%). Lung function was available and normal for 6 patients. Longitudinal analysis demonstrated sustained CD3(+), CD19(+), and NK-cell output 15 years post-HSCT. CD4(+) naive lymphocyte numbers were better in conditioned vs unconditioned recipients (P, .06). B-lymphocyte and myeloid chimerism were highly correlated (ρ, 0.98; P < .001). Low-toxicity myeloablative conditioning recipients have better B-lymphocyte/myeloid chimerism and are free from immunoglobulin replacement therapy. IL2RG/JAK3 SCID survivors free from immunoglobulin replacement have normal QoL.</AbstractText>
<CopyrightInformation>© 2017 by The American Society of Hematology.</CopyrightInformation>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Abd Hamid</LastName>
<ForeName>Intan Juliana</ForeName>
<Initials>IJ</Initials>
<Identifier Source="ORCID">http://orcid.org/0000-0001-6749-1498</Identifier>
<AffiliationInfo><Affiliation>Pediatric Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatric Immunology and Hematopoietic Stem Cell Transplantation, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Regenerative Medicine Cluster, Institut Perubatan and Pergigian Termaju, Universiti Sains Malaysia, Kepala Batas, Malaysia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Slatter</LastName>
<ForeName>Mary A</ForeName>
<Initials>MA</Initials>
<AffiliationInfo><Affiliation>Pediatric Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatric Immunology and Hematopoietic Stem Cell Transplantation, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.</Affiliation>
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<AffiliationInfo><Affiliation>Department of Health Psychology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; and.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Pearce</LastName>
<ForeName>Mark S</ForeName>
<Initials>MS</Initials>
<AffiliationInfo><Affiliation>Institute of Health and Society, Newcastle University, Newcastle upon Tyne, United Kingdom.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Gennery</LastName>
<ForeName>Andrew R</ForeName>
<Initials>AR</Initials>
<AffiliationInfo><Affiliation>Pediatric Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatric Immunology and Hematopoietic Stem Cell Transplantation, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.</Affiliation>
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<ISSNLinking>0006-4971</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D015703">Antigens, CD</NameOfSubstance>
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<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C507941">IL2RG protein, human</NameOfSubstance>
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<NameOfSubstance UI="D053631">Interleukin Receptor Common gamma Subunit</NameOfSubstance>
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<MeshHeading><DescriptorName UI="D005500" MajorTopicYN="N">Follow-Up Studies</DescriptorName>
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<MeshHeading><DescriptorName UI="D018380" MajorTopicYN="Y">Hematopoietic Stem Cell Transplantation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D053631" MajorTopicYN="N">Interleukin Receptor Common gamma Subunit</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D053616" MajorTopicYN="N">Janus Kinase 3</DescriptorName>
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<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D011788" MajorTopicYN="Y">Quality of Life</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012189" MajorTopicYN="N">Retrospective Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D016511" MajorTopicYN="Y">Severe Combined Immunodeficiency</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000276" MajorTopicYN="N">immunology</QualifierName>
<QualifierName UI="Q000401" MajorTopicYN="N">mortality</QualifierName>
<QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015996" MajorTopicYN="N">Survival Rate</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013601" MajorTopicYN="N">T-Lymphocytes</DescriptorName>
<QualifierName UI="Q000276" MajorTopicYN="Y">immunology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013997" MajorTopicYN="N">Time Factors</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D018183" MajorTopicYN="N">Transplantation Chimera</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000276" MajorTopicYN="N">immunology</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
<Month>10</Month>
<Day>31</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2017</Year>
<Month>02</Month>
<Day>12</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2017</Year>
<Month>2</Month>
<Day>18</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2017</Year>
<Month>4</Month>
<Day>30</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2017</Year>
<Month>2</Month>
<Day>18</Day>
<Hour>6</Hour>
<Minute>0</Minute>
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</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">28209722</ArticleId>
<ArticleId IdType="pii">blood-2016-11-748616</ArticleId>
<ArticleId IdType="doi">10.1182/blood-2016-11-748616</ArticleId>
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<affiliations><list><country><li>Royaume-Uni</li>
</country>
</list>
<tree><noCountry><name sortKey="Mckendrick, Fiona" sort="Mckendrick, Fiona" uniqKey="Mckendrick F" first="Fiona" last="Mckendrick">Fiona Mckendrick</name>
</noCountry>
<country name="Royaume-Uni"><noRegion><name sortKey="Abd Hamid, Intan Juliana" sort="Abd Hamid, Intan Juliana" uniqKey="Abd Hamid I" first="Intan Juliana" last="Abd Hamid">Intan Juliana Abd Hamid</name>
</noRegion>
<name sortKey="Gennery, Andrew R" sort="Gennery, Andrew R" uniqKey="Gennery A" first="Andrew R" last="Gennery">Andrew R. Gennery</name>
<name sortKey="Pearce, Mark S" sort="Pearce, Mark S" uniqKey="Pearce M" first="Mark S" last="Pearce">Mark S. Pearce</name>
<name sortKey="Slatter, Mary A" sort="Slatter, Mary A" uniqKey="Slatter M" first="Mary A" last="Slatter">Mary A. Slatter</name>
</country>
</tree>
</affiliations>
</record>
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