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Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.

Identifieur interne : 000357 ( PubMed/Curation ); précédent : 000356; suivant : 000358

Long-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.

RBID : pubmed:28209722

Descripteurs français

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

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Fiona Mckendrick

<affiliation><nlm:affiliation>Department of Health Psychology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; and.</nlm:affiliation>
<wicri:noCountry code="subField">United Kingdom; and</wicri:noCountry>
</affiliation>

Le 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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<Month>02</Month>
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<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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<ForeName>Intan Juliana</ForeName>
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<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>
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<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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<Author ValidYN="Y"><LastName>Gennery</LastName>
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<AffiliationInfo><Affiliation>Pediatric Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.</Affiliation>
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<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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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
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<MeshHeading><DescriptorName UI="D016511" MajorTopicYN="Y">Severe Combined Immunodeficiency</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000276" MajorTopicYN="N">immunology</QualifierName>
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<QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName>
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<MeshHeading><DescriptorName UI="D015996" MajorTopicYN="N">Survival Rate</DescriptorName>
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<MeshHeading><DescriptorName UI="D013601" MajorTopicYN="N">T-Lymphocytes</DescriptorName>
<QualifierName UI="Q000276" MajorTopicYN="Y">immunology</QualifierName>
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<MeshHeading><DescriptorName UI="D013997" MajorTopicYN="N">Time Factors</DescriptorName>
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<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
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   |texte=   Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.
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Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.

Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.

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