AustralieFrV1, Main, Exploration, bibRecord, 00A375

Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia

Identifieur interne : 00A375 ( Main/Exploration ); précédent : 00A374; suivant : 00A376

Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia

Auteurs : Samantha L. Ginn [Australie] ; Julie A. Curtin [Australie] ; Belinda Kramer [Australie] ; Christine M. Smyth [Australie] ; Melanie Wong [Australie] ; Alyson Kakakios [Australie] ; Geoffrey B. Mccowage [Australie] ; Debbie Watson [Australie] ; Stephen I. Alexander [Australie] ; Margot Latham [Australie] ; Sharon C. Cunningham [Australie] ; Maolin Zheng [Australie] ; Linda Hobson [Australie] ; Peter B. Rowe [Australie] ; Alain Fischer [France] ; Marina Cavazzana-Calvo [France] ; Salima Hacein-Bey-Abina [France] ; Ian E. Alexander [Australie]

Source :

Medical journal of Australia [ 0025-729X ] ; 2005.

RBID : Pascal:05-0226209

Descripteurs français

Pascal (Inist)
- Immunodéficit combiné sévère, Traitement, Nourrisson, Immunodéficit mixte, Caractère lié au sexe, Chromosome X, Thérapie génique, Australie.
Wicri :
- geographic : Australie.

English descriptors

KwdEn :
- Australia, Combined immune deficiency, Gene therapy, Infant, Severe combined immunodeficiency, Sex linked character, Treatment, X-Chromosome.

Abstract

Objective: To report the outcome of gene therapy in an infant with X-linked severe combined immunodeficiency (SCID-X1), which typically causes a lack of T and natural killer (NK) cells. Design and setting: Ex-vivo culture and gene transfer procedures were performed at The Children's Hospital at Westmead, Sydney, NSW, in March 2002. Follow-up to March 2005 (36 months) is available. Patient: A 9-month-old male infant with confirmed SCID-X1 (including complete absence of T cells) with an NK+ phenotype (a less common variant of SCID-X1), and no HLA-identical sibling donor available for conventional bone marrow transplantation. Procedure: CD34+ haemopoietic progenitor cells were isolated from harvested bone marrow and cultured with cytokines to stimulate cellular replication. Cells were then genetically modified by exposure to a retrovirus vector encoding human yc (the common y chain of several interleukin receptors; mutations affecting the yc gene cause SCID-X1). Gene-modified cells (equivalent to 1.3×10⁶ CD34+/γc+ cells/kg) were returned to the infant via a central line. Results: T cells were observed in peripheral blood 75 days after treatment, and levels increased rapidly to 0.46×10⁹ CD3+ cells/L at 5 months. Within 2 weeks of the appearance of T cells, there was a distinct clinical improvement, with early weight gain and clearance of rotavirus from the gut. However, T-cell levels did not reach the reference range, and immune reconstitution remained incomplete. The infant failed to thrive and developed weakness, hypertonia and hyperreflexia in the legs, possibly the result of immune dysregulation. He went on to receive a bone marrow transplant from a matched unrelated donor 26 months after gene therapy. Conclusions: This is the first occasion that gene therapy has been used to treat a genetic disease in Australia. Only partial immunological reconstitution was achieved, most likely because of the relatively low dose of gene-corrected CD34+ cells re-infused, although viral infection during the early phase of T-cell reconstitution and the infant's NK+ phenotype may also have exerted an effect.

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 004967
to stream PascalFrancis, to step Curation: 001736
to stream PascalFrancis, to step Checkpoint: 004299
to stream Main, to step Merge: 00AF49
to stream Main, to step Curation: 00A375

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia</title>
<author><name sortKey="Ginn, Samantha L" sort="Ginn, Samantha L" uniqKey="Ginn S" first="Samantha L." last="Ginn">Samantha L. Ginn</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Curtin, Julie A" sort="Curtin, Julie A" uniqKey="Curtin J" first="Julie A." last="Curtin">Julie A. Curtin</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kramer, Belinda" sort="Kramer, Belinda" uniqKey="Kramer B" first="Belinda" last="Kramer">Belinda Kramer</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Oncology Research Unit, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Smyth, Christine M" sort="Smyth, Christine M" uniqKey="Smyth C" first="Christine M." last="Smyth">Christine M. Smyth</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wong, Melanie" sort="Wong, Melanie" uniqKey="Wong M" first="Melanie" last="Wong">Melanie Wong</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Immunology and Infectious Diseases, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kakakios, Alyson" sort="Kakakios, Alyson" uniqKey="Kakakios A" first="Alyson" last="Kakakios">Alyson Kakakios</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Immunology and Infectious Diseases, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Sydney Department of Paediatrics and Child Health. Department of Oncology, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mccowage, Geoffrey B" sort="Mccowage, Geoffrey B" uniqKey="Mccowage G" first="Geoffrey B." last="Mccowage">Geoffrey B. Mccowage</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Centre for Kidney Research, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Watson, Debbie" sort="Watson, Debbie" uniqKey="Watson D" first="Debbie" last="Watson">Debbie Watson</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Sydney Department of Paediatrics and Child Health. Department of Oncology, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Alexander, Stephen I" sort="Alexander, Stephen I" uniqKey="Alexander S" first="Stephen I." last="Alexander">Stephen I. Alexander</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Latham, Margot" sort="Latham, Margot" uniqKey="Latham M" first="Margot" last="Latham">Margot Latham</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cunningham, Sharon C" sort="Cunningham, Sharon C" uniqKey="Cunningham S" first="Sharon C." last="Cunningham">Sharon C. Cunningham</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zheng, Maolin" sort="Zheng, Maolin" uniqKey="Zheng M" first="Maolin" last="Zheng">Maolin Zheng</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hobson, Linda" sort="Hobson, Linda" uniqKey="Hobson L" first="Linda" last="Hobson">Linda Hobson</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rowe, Peter B" sort="Rowe, Peter B" uniqKey="Rowe P" first="Peter B." last="Rowe">Peter B. Rowe</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Hôpital Necker</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cavazzana Calvo, Marina" sort="Cavazzana Calvo, Marina" uniqKey="Cavazzana Calvo M" first="Marina" last="Cavazzana-Calvo">Marina Cavazzana-Calvo</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Hôpital Necker</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hacein Bey Abina, Salima" sort="Hacein Bey Abina, Salima" uniqKey="Hacein Bey Abina S" first="Salima" last="Hacein-Bey-Abina">Salima Hacein-Bey-Abina</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Hôpital Necker</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Alexander, Ian E" sort="Alexander, Ian E" uniqKey="Alexander I" first="Ian E." last="Alexander">Ian E. Alexander</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>University of Sydney Department of Paediatrics and Child Health</s1>
<s3>AUS</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>University of Sydney Department of Paediatrics and Child Health</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">05-0226209</idno>
<date when="2005">2005</date>
<idno type="stanalyst">PASCAL 05-0226209 INIST</idno>
<idno type="RBID">Pascal:05-0226209</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">004967</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001736</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">004299</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">004299</idno>
<idno type="wicri:doubleKey">0025-729X:2005:Ginn S:treatment:of:an</idno>
<idno type="wicri:Area/Main/Merge">00AF49</idno>
<idno type="wicri:Area/Main/Curation">00A375</idno>
<idno type="wicri:Area/Main/Exploration">00A375</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia</title>
<author><name sortKey="Ginn, Samantha L" sort="Ginn, Samantha L" uniqKey="Ginn S" first="Samantha L." last="Ginn">Samantha L. Ginn</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Curtin, Julie A" sort="Curtin, Julie A" uniqKey="Curtin J" first="Julie A." last="Curtin">Julie A. Curtin</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kramer, Belinda" sort="Kramer, Belinda" uniqKey="Kramer B" first="Belinda" last="Kramer">Belinda Kramer</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Oncology Research Unit, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Smyth, Christine M" sort="Smyth, Christine M" uniqKey="Smyth C" first="Christine M." last="Smyth">Christine M. Smyth</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wong, Melanie" sort="Wong, Melanie" uniqKey="Wong M" first="Melanie" last="Wong">Melanie Wong</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Immunology and Infectious Diseases, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kakakios, Alyson" sort="Kakakios, Alyson" uniqKey="Kakakios A" first="Alyson" last="Kakakios">Alyson Kakakios</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Immunology and Infectious Diseases, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Sydney Department of Paediatrics and Child Health. Department of Oncology, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mccowage, Geoffrey B" sort="Mccowage, Geoffrey B" uniqKey="Mccowage G" first="Geoffrey B." last="Mccowage">Geoffrey B. Mccowage</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Centre for Kidney Research, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Watson, Debbie" sort="Watson, Debbie" uniqKey="Watson D" first="Debbie" last="Watson">Debbie Watson</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>University of Sydney Department of Paediatrics and Child Health. Department of Oncology, The Children's Hospital at Westmead</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Alexander, Stephen I" sort="Alexander, Stephen I" uniqKey="Alexander S" first="Stephen I." last="Alexander">Stephen I. Alexander</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Latham, Margot" sort="Latham, Margot" uniqKey="Latham M" first="Margot" last="Latham">Margot Latham</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cunningham, Sharon C" sort="Cunningham, Sharon C" uniqKey="Cunningham S" first="Sharon C." last="Cunningham">Sharon C. Cunningham</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zheng, Maolin" sort="Zheng, Maolin" uniqKey="Zheng M" first="Maolin" last="Zheng">Maolin Zheng</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hobson, Linda" sort="Hobson, Linda" uniqKey="Hobson L" first="Linda" last="Hobson">Linda Hobson</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rowe, Peter B" sort="Rowe, Peter B" uniqKey="Rowe P" first="Peter B." last="Rowe">Peter B. Rowe</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Hôpital Necker</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cavazzana Calvo, Marina" sort="Cavazzana Calvo, Marina" uniqKey="Cavazzana Calvo M" first="Marina" last="Cavazzana-Calvo">Marina Cavazzana-Calvo</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Hôpital Necker</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hacein Bey Abina, Salima" sort="Hacein Bey Abina, Salima" uniqKey="Hacein Bey Abina S" first="Salima" last="Hacein-Bey-Abina">Salima Hacein-Bey-Abina</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Hôpital Necker</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Alexander, Ian E" sort="Alexander, Ian E" uniqKey="Alexander I" first="Ian E." last="Alexander">Ian E. Alexander</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Gene Therapy Research Unit, The Children's Hospital at Westmead and Children's Medical Research Unit</s1>
<s2>Sydney, NSW</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Sydney, NSW</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>University of Sydney Department of Paediatrics and Child Health</s1>
<s3>AUS</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>University of Sydney Department of Paediatrics and Child Health</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Medical journal of Australia</title>
<title level="j" type="abbreviated">Med. j. Aust.</title>
<idno type="ISSN">0025-729X</idno>
<imprint><date when="2005">2005</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Medical journal of Australia</title>
<title level="j" type="abbreviated">Med. j. Aust.</title>
<idno type="ISSN">0025-729X</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Australia</term>
<term>Combined immune deficiency</term>
<term>Gene therapy</term>
<term>Infant</term>
<term>Severe combined immunodeficiency</term>
<term>Sex linked character</term>
<term>Treatment</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Immunodéficit combiné sévère</term>
<term>Traitement</term>
<term>Nourrisson</term>
<term>Immunodéficit mixte</term>
<term>Caractère lié au sexe</term>
<term>Chromosome X</term>
<term>Thérapie génique</term>
<term>Australie</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Australie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Objective: To report the outcome of gene therapy in an infant with X-linked severe combined immunodeficiency (SCID-X1), which typically causes a lack of T and natural killer (NK) cells. Design and setting: Ex-vivo culture and gene transfer procedures were performed at The Children's Hospital at Westmead, Sydney, NSW, in March 2002. Follow-up to March 2005 (36 months) is available. Patient: A 9-month-old male infant with confirmed SCID-X1 (including complete absence of T cells) with an NK+ phenotype (a less common variant of SCID-X1), and no HLA-identical sibling donor available for conventional bone marrow transplantation. Procedure: CD34+ haemopoietic progenitor cells were isolated from harvested bone marrow and cultured with cytokines to stimulate cellular replication. Cells were then genetically modified by exposure to a retrovirus vector encoding human yc (the common y chain of several interleukin receptors; mutations affecting the yc gene cause SCID-X1). Gene-modified cells (equivalent to 1.3×10<sup>6</sup>
 CD34+/γc+ cells/kg) were returned to the infant via a central line. Results: T cells were observed in peripheral blood 75 days after treatment, and levels increased rapidly to 0.46×10<sup>9</sup>
 CD3+ cells/L at 5 months. Within 2 weeks of the appearance of T cells, there was a distinct clinical improvement, with early weight gain and clearance of rotavirus from the gut. However, T-cell levels did not reach the reference range, and immune reconstitution remained incomplete. The infant failed to thrive and developed weakness, hypertonia and hyperreflexia in the legs, possibly the result of immune dysregulation. He went on to receive a bone marrow transplant from a matched unrelated donor 26 months after gene therapy. Conclusions: This is the first occasion that gene therapy has been used to treat a genetic disease in Australia. Only partial immunological reconstitution was achieved, most likely because of the relatively low dose of gene-corrected CD34+ cells re-infused, although viral infection during the early phase of T-cell reconstitution and the infant's NK+ phenotype may also have exerted an effect.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
</country>
<region><li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
</settlement>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Ginn, Samantha L" sort="Ginn, Samantha L" uniqKey="Ginn S" first="Samantha L." last="Ginn">Samantha L. Ginn</name>
</noRegion>
<name sortKey="Alexander, Ian E" sort="Alexander, Ian E" uniqKey="Alexander I" first="Ian E." last="Alexander">Ian E. Alexander</name>
<name sortKey="Alexander, Ian E" sort="Alexander, Ian E" uniqKey="Alexander I" first="Ian E." last="Alexander">Ian E. Alexander</name>
<name sortKey="Alexander, Stephen I" sort="Alexander, Stephen I" uniqKey="Alexander S" first="Stephen I." last="Alexander">Stephen I. Alexander</name>
<name sortKey="Cunningham, Sharon C" sort="Cunningham, Sharon C" uniqKey="Cunningham S" first="Sharon C." last="Cunningham">Sharon C. Cunningham</name>
<name sortKey="Curtin, Julie A" sort="Curtin, Julie A" uniqKey="Curtin J" first="Julie A." last="Curtin">Julie A. Curtin</name>
<name sortKey="Hobson, Linda" sort="Hobson, Linda" uniqKey="Hobson L" first="Linda" last="Hobson">Linda Hobson</name>
<name sortKey="Kakakios, Alyson" sort="Kakakios, Alyson" uniqKey="Kakakios A" first="Alyson" last="Kakakios">Alyson Kakakios</name>
<name sortKey="Kakakios, Alyson" sort="Kakakios, Alyson" uniqKey="Kakakios A" first="Alyson" last="Kakakios">Alyson Kakakios</name>
<name sortKey="Kramer, Belinda" sort="Kramer, Belinda" uniqKey="Kramer B" first="Belinda" last="Kramer">Belinda Kramer</name>
<name sortKey="Latham, Margot" sort="Latham, Margot" uniqKey="Latham M" first="Margot" last="Latham">Margot Latham</name>
<name sortKey="Mccowage, Geoffrey B" sort="Mccowage, Geoffrey B" uniqKey="Mccowage G" first="Geoffrey B." last="Mccowage">Geoffrey B. Mccowage</name>
<name sortKey="Rowe, Peter B" sort="Rowe, Peter B" uniqKey="Rowe P" first="Peter B." last="Rowe">Peter B. Rowe</name>
<name sortKey="Smyth, Christine M" sort="Smyth, Christine M" uniqKey="Smyth C" first="Christine M." last="Smyth">Christine M. Smyth</name>
<name sortKey="Watson, Debbie" sort="Watson, Debbie" uniqKey="Watson D" first="Debbie" last="Watson">Debbie Watson</name>
<name sortKey="Wong, Melanie" sort="Wong, Melanie" uniqKey="Wong M" first="Melanie" last="Wong">Melanie Wong</name>
<name sortKey="Zheng, Maolin" sort="Zheng, Maolin" uniqKey="Zheng M" first="Maolin" last="Zheng">Maolin Zheng</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name>
</region>
<name sortKey="Cavazzana Calvo, Marina" sort="Cavazzana Calvo, Marina" uniqKey="Cavazzana Calvo M" first="Marina" last="Cavazzana-Calvo">Marina Cavazzana-Calvo</name>
<name sortKey="Hacein Bey Abina, Salima" sort="Hacein Bey Abina, Salima" uniqKey="Hacein Bey Abina S" first="Salima" last="Hacein-Bey-Abina">Salima Hacein-Bey-Abina</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00A375 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00A375 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:05-0226209
   |texte=   Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur les relations entre la France et l'Australie

Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia

Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri