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Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome
Reticular dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 were identified to cause the disorder. Hematopoietic stem cell tran...
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| Published in: | Blood 2017-05, Vol.129 (21), p.2928-2938 |
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| creator | Hoenig, Manfred Lagresle-Peyrou, Chantal Pannicke, Ulrich Notarangelo, Luigi D. Porta, Fulvio Gennery, Andrew R. Slatter, Mary Cowan, Morton J. Stepensky, Polina Al-Mousa, Hamoud Al-Zahrani, Daifulah Pai, Sung-Yun Al Herz, Waleed Gaspar, Hubert B. Veys, Paul Oshima, Koichi Imai, Kohsuke Yabe, Hiromasa Noroski, Lenora M. Wulffraat, Nico M. Sykora, Karl-Walter Soler-Palacin, Pere Muramatsu, Hideki Al Hilali, Mariam Moshous, Despina Debatin, Klaus-Michael Schuetz, Catharina Jacobsen, Eva-Maria Schulz, Ansgar S. Schwarz, Klaus Fischer, Alain Friedrich, Wilhelm Cavazzana, Marina |
| description | Reticular dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 were identified to cause the disorder. Hematopoietic stem cell transplantation (HSCT) is the only option to cure this otherwise fatal disease. Retrospective data on clinical presentation, genetics, and outcome of HSCT were collected from centers in Europe, Asia, and North America for a total of 32 patients born between 1982 and 2011. Age at presentation was |
| doi_str_mv | 10.1182/blood-2016-11-745638 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5445572</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0006497120333644</els_id><sourcerecordid>1880466207</sourcerecordid><originalsourceid>FETCH-LOGICAL-c529t-51c3f40e7f8ecbd768f72f4c8dff1b7e1ebb2b11411f06e0213c8050f89bcfd03</originalsourceid><addsrcrecordid>eNp9kcFuFDEMhiMEokvhDRCaI4cO2JlkJssBCVWlRaqEVJVzlEmcEjSbLElmpX17pt2ywIWTZef3bzsfY68R3iEq_n6cUnItB-xbxHYQsu_UE7ZCyVULwOEpWwFA34r1gCfsRSk_AFB0XD5nJ1x1HYKUK2ZuqAY7TyY3bl_uKFIJ5UMTYqUcTQ0pmqkpc97RvkmxsVOIwS6lbaZCsT4ozpqaTSzbyRwLJromzdWmDb1kz7yZCr16jKfs2-eL2_Or9vrr5ZfzT9etlXxdW4m28wJo8Irs6IZe-YF7YZXzHseBkMaRj4gC0UNPwLGzCiR4tR6td9Cdso8H3-08bsjZZbtsJr3NYWPyXicT9L8vMXzXd2mnpRBSDnwxePtokNPPmUrVm1AsTctZlOaiUSkQfc9hWKTiILU5lZLJH8cg6Hs6-oGOvqez5PpAZ2l78_eKx6bfOP7cQMtH7QJlXWygaMmFTLZql8L_J_wCtAqlRA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1880466207</pqid></control><display><type>article</type><title>Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome</title><source>Elsevier ScienceDirect Journals</source><creator>Hoenig, Manfred ; Lagresle-Peyrou, Chantal ; Pannicke, Ulrich ; Notarangelo, Luigi D. ; Porta, Fulvio ; Gennery, Andrew R. ; Slatter, Mary ; Cowan, Morton J. ; Stepensky, Polina ; Al-Mousa, Hamoud ; Al-Zahrani, Daifulah ; Pai, Sung-Yun ; Al Herz, Waleed ; Gaspar, Hubert B. ; Veys, Paul ; Oshima, Koichi ; Imai, Kohsuke ; Yabe, Hiromasa ; Noroski, Lenora M. ; Wulffraat, Nico M. ; Sykora, Karl-Walter ; Soler-Palacin, Pere ; Muramatsu, Hideki ; Al Hilali, Mariam ; Moshous, Despina ; Debatin, Klaus-Michael ; Schuetz, Catharina ; Jacobsen, Eva-Maria ; Schulz, Ansgar S. ; Schwarz, Klaus ; Fischer, Alain ; Friedrich, Wilhelm ; Cavazzana, Marina</creator><creatorcontrib>Hoenig, Manfred ; Lagresle-Peyrou, Chantal ; Pannicke, Ulrich ; Notarangelo, Luigi D. ; Porta, Fulvio ; Gennery, Andrew R. ; Slatter, Mary ; Cowan, Morton J. ; Stepensky, Polina ; Al-Mousa, Hamoud ; Al-Zahrani, Daifulah ; Pai, Sung-Yun ; Al Herz, Waleed ; Gaspar, Hubert B. ; Veys, Paul ; Oshima, Koichi ; Imai, Kohsuke ; Yabe, Hiromasa ; Noroski, Lenora M. ; Wulffraat, Nico M. ; Sykora, Karl-Walter ; Soler-Palacin, Pere ; Muramatsu, Hideki ; Al Hilali, Mariam ; Moshous, Despina ; Debatin, Klaus-Michael ; Schuetz, Catharina ; Jacobsen, Eva-Maria ; Schulz, Ansgar S. ; Schwarz, Klaus ; Fischer, Alain ; Friedrich, Wilhelm ; Cavazzana, Marina ; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party</creatorcontrib><description>Reticular dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 were identified to cause the disorder. Hematopoietic stem cell transplantation (HSCT) is the only option to cure this otherwise fatal disease. Retrospective data on clinical presentation, genetics, and outcome of HSCT were collected from centers in Europe, Asia, and North America for a total of 32 patients born between 1982 and 2011. Age at presentation was <4 weeks in 30 of 32 patients (94%). Grafts originated from mismatched family donors in 17 patients (55%), from matched family donors in 6 patients (19%), and from unrelated marrow or umbilical cord blood donors in 8 patients (26%). Thirteen patients received secondary or tertiary transplants. After transplantation, 21 of 31 patients were reported alive at a mean follow-up of 7.9 years (range: 0.6-23.6 years). All patients who died beyond 6 months after HSCT had persistent or recurrent agranulocytosis due to failure of donor myeloid engraftment. In the absence of conditioning, HSCT was ineffective to overcome agranulocytosis, and inclusion of myeloablative components in the conditioning regimens was required to achieve stable lymphomyeloid engraftment. In comparison with other SCID entities, considerable differences were noted regarding age at presentation, onset, and type of infectious complications, as well as the requirement of conditioning prior to HSCT. Although long-term survival is possible in the presence of mixed chimerism, high-level donor myeloid engraftment should be targeted to avoid posttransplant neutropenia.
•Compared with other SCID entities, patients with RD have an earlier presentation with bacterial rather than opportunistic infections.•Myeloablative agents before transplantation support reliable myeloid engraftment and long-term cure in patients with RD.</description><identifier>ISSN: 0006-4971</identifier><identifier>EISSN: 1528-0020</identifier><identifier>DOI: 10.1182/blood-2016-11-745638</identifier><identifier>PMID: 28331055</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adenylyl Cyclases - genetics ; Adenylyl Cyclases - metabolism ; Adolescent ; Adult ; Age of Onset ; Allografts ; Child ; Cord Blood Stem Cell Transplantation ; Disease-Free Survival ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Leukopenia - enzymology ; Leukopenia - genetics ; Leukopenia - mortality ; Leukopenia - therapy ; Male ; Severe Combined Immunodeficiency - enzymology ; Severe Combined Immunodeficiency - genetics ; Severe Combined Immunodeficiency - mortality ; Severe Combined Immunodeficiency - therapy ; Survival Rate ; Transplantation ; Transplantation Conditioning ; Unrelated Donors</subject><ispartof>Blood, 2017-05, Vol.129 (21), p.2928-2938</ispartof><rights>2017 American Society of Hematology</rights><rights>2017 by The American Society of Hematology.</rights><rights>2017 by The American Society of Hematology 2017</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c529t-51c3f40e7f8ecbd768f72f4c8dff1b7e1ebb2b11411f06e0213c8050f89bcfd03</citedby><cites>FETCH-LOGICAL-c529t-51c3f40e7f8ecbd768f72f4c8dff1b7e1ebb2b11411f06e0213c8050f89bcfd03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0006497120333644$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,780,784,885,3549,27924,27925,45780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28331055$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hoenig, Manfred</creatorcontrib><creatorcontrib>Lagresle-Peyrou, Chantal</creatorcontrib><creatorcontrib>Pannicke, Ulrich</creatorcontrib><creatorcontrib>Notarangelo, Luigi D.</creatorcontrib><creatorcontrib>Porta, Fulvio</creatorcontrib><creatorcontrib>Gennery, Andrew R.</creatorcontrib><creatorcontrib>Slatter, Mary</creatorcontrib><creatorcontrib>Cowan, Morton J.</creatorcontrib><creatorcontrib>Stepensky, Polina</creatorcontrib><creatorcontrib>Al-Mousa, Hamoud</creatorcontrib><creatorcontrib>Al-Zahrani, Daifulah</creatorcontrib><creatorcontrib>Pai, Sung-Yun</creatorcontrib><creatorcontrib>Al Herz, Waleed</creatorcontrib><creatorcontrib>Gaspar, Hubert B.</creatorcontrib><creatorcontrib>Veys, Paul</creatorcontrib><creatorcontrib>Oshima, Koichi</creatorcontrib><creatorcontrib>Imai, Kohsuke</creatorcontrib><creatorcontrib>Yabe, Hiromasa</creatorcontrib><creatorcontrib>Noroski, Lenora M.</creatorcontrib><creatorcontrib>Wulffraat, Nico M.</creatorcontrib><creatorcontrib>Sykora, Karl-Walter</creatorcontrib><creatorcontrib>Soler-Palacin, Pere</creatorcontrib><creatorcontrib>Muramatsu, Hideki</creatorcontrib><creatorcontrib>Al Hilali, Mariam</creatorcontrib><creatorcontrib>Moshous, Despina</creatorcontrib><creatorcontrib>Debatin, Klaus-Michael</creatorcontrib><creatorcontrib>Schuetz, Catharina</creatorcontrib><creatorcontrib>Jacobsen, Eva-Maria</creatorcontrib><creatorcontrib>Schulz, Ansgar S.</creatorcontrib><creatorcontrib>Schwarz, Klaus</creatorcontrib><creatorcontrib>Fischer, Alain</creatorcontrib><creatorcontrib>Friedrich, Wilhelm</creatorcontrib><creatorcontrib>Cavazzana, Marina</creatorcontrib><creatorcontrib>European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party</creatorcontrib><title>Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome</title><title>Blood</title><addtitle>Blood</addtitle><description>Reticular dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 were identified to cause the disorder. Hematopoietic stem cell transplantation (HSCT) is the only option to cure this otherwise fatal disease. Retrospective data on clinical presentation, genetics, and outcome of HSCT were collected from centers in Europe, Asia, and North America for a total of 32 patients born between 1982 and 2011. Age at presentation was <4 weeks in 30 of 32 patients (94%). Grafts originated from mismatched family donors in 17 patients (55%), from matched family donors in 6 patients (19%), and from unrelated marrow or umbilical cord blood donors in 8 patients (26%). Thirteen patients received secondary or tertiary transplants. After transplantation, 21 of 31 patients were reported alive at a mean follow-up of 7.9 years (range: 0.6-23.6 years). All patients who died beyond 6 months after HSCT had persistent or recurrent agranulocytosis due to failure of donor myeloid engraftment. In the absence of conditioning, HSCT was ineffective to overcome agranulocytosis, and inclusion of myeloablative components in the conditioning regimens was required to achieve stable lymphomyeloid engraftment. In comparison with other SCID entities, considerable differences were noted regarding age at presentation, onset, and type of infectious complications, as well as the requirement of conditioning prior to HSCT. Although long-term survival is possible in the presence of mixed chimerism, high-level donor myeloid engraftment should be targeted to avoid posttransplant neutropenia.
•Compared with other SCID entities, patients with RD have an earlier presentation with bacterial rather than opportunistic infections.•Myeloablative agents before transplantation support reliable myeloid engraftment and long-term cure in patients with RD.</description><subject>Adenylyl Cyclases - genetics</subject><subject>Adenylyl Cyclases - metabolism</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Allografts</subject><subject>Child</subject><subject>Cord Blood Stem Cell Transplantation</subject><subject>Disease-Free Survival</subject><subject>Female</subject><subject>Hematopoietic Stem Cell Transplantation</subject><subject>Humans</subject><subject>Leukopenia - enzymology</subject><subject>Leukopenia - genetics</subject><subject>Leukopenia - mortality</subject><subject>Leukopenia - therapy</subject><subject>Male</subject><subject>Severe Combined Immunodeficiency - enzymology</subject><subject>Severe Combined Immunodeficiency - genetics</subject><subject>Severe Combined Immunodeficiency - mortality</subject><subject>Severe Combined Immunodeficiency - therapy</subject><subject>Survival Rate</subject><subject>Transplantation</subject><subject>Transplantation Conditioning</subject><subject>Unrelated Donors</subject><issn>0006-4971</issn><issn>1528-0020</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNp9kcFuFDEMhiMEokvhDRCaI4cO2JlkJssBCVWlRaqEVJVzlEmcEjSbLElmpX17pt2ywIWTZef3bzsfY68R3iEq_n6cUnItB-xbxHYQsu_UE7ZCyVULwOEpWwFA34r1gCfsRSk_AFB0XD5nJ1x1HYKUK2ZuqAY7TyY3bl_uKFIJ5UMTYqUcTQ0pmqkpc97RvkmxsVOIwS6lbaZCsT4ozpqaTSzbyRwLJromzdWmDb1kz7yZCr16jKfs2-eL2_Or9vrr5ZfzT9etlXxdW4m28wJo8Irs6IZe-YF7YZXzHseBkMaRj4gC0UNPwLGzCiR4tR6td9Cdso8H3-08bsjZZbtsJr3NYWPyXicT9L8vMXzXd2mnpRBSDnwxePtokNPPmUrVm1AsTctZlOaiUSkQfc9hWKTiILU5lZLJH8cg6Hs6-oGOvqez5PpAZ2l78_eKx6bfOP7cQMtH7QJlXWygaMmFTLZql8L_J_wCtAqlRA</recordid><startdate>20170525</startdate><enddate>20170525</enddate><creator>Hoenig, Manfred</creator><creator>Lagresle-Peyrou, Chantal</creator><creator>Pannicke, Ulrich</creator><creator>Notarangelo, Luigi D.</creator><creator>Porta, Fulvio</creator><creator>Gennery, Andrew R.</creator><creator>Slatter, Mary</creator><creator>Cowan, Morton J.</creator><creator>Stepensky, Polina</creator><creator>Al-Mousa, Hamoud</creator><creator>Al-Zahrani, Daifulah</creator><creator>Pai, Sung-Yun</creator><creator>Al Herz, Waleed</creator><creator>Gaspar, Hubert B.</creator><creator>Veys, Paul</creator><creator>Oshima, Koichi</creator><creator>Imai, Kohsuke</creator><creator>Yabe, Hiromasa</creator><creator>Noroski, Lenora M.</creator><creator>Wulffraat, Nico M.</creator><creator>Sykora, Karl-Walter</creator><creator>Soler-Palacin, Pere</creator><creator>Muramatsu, Hideki</creator><creator>Al Hilali, Mariam</creator><creator>Moshous, Despina</creator><creator>Debatin, Klaus-Michael</creator><creator>Schuetz, Catharina</creator><creator>Jacobsen, Eva-Maria</creator><creator>Schulz, Ansgar S.</creator><creator>Schwarz, Klaus</creator><creator>Fischer, Alain</creator><creator>Friedrich, Wilhelm</creator><creator>Cavazzana, Marina</creator><general>Elsevier Inc</general><general>American Society of Hematology</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20170525</creationdate><title>Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome</title><author>Hoenig, Manfred ; Lagresle-Peyrou, Chantal ; Pannicke, Ulrich ; Notarangelo, Luigi D. ; Porta, Fulvio ; Gennery, Andrew R. ; Slatter, Mary ; Cowan, Morton J. ; Stepensky, Polina ; Al-Mousa, Hamoud ; Al-Zahrani, Daifulah ; Pai, Sung-Yun ; Al Herz, Waleed ; Gaspar, Hubert B. ; Veys, Paul ; Oshima, Koichi ; Imai, Kohsuke ; Yabe, Hiromasa ; Noroski, Lenora M. ; Wulffraat, Nico M. ; Sykora, Karl-Walter ; Soler-Palacin, Pere ; Muramatsu, Hideki ; Al Hilali, Mariam ; Moshous, Despina ; Debatin, Klaus-Michael ; Schuetz, Catharina ; Jacobsen, Eva-Maria ; Schulz, Ansgar S. ; Schwarz, Klaus ; Fischer, Alain ; Friedrich, Wilhelm ; Cavazzana, Marina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c529t-51c3f40e7f8ecbd768f72f4c8dff1b7e1ebb2b11411f06e0213c8050f89bcfd03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adenylyl Cyclases - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Blood</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hoenig, Manfred</au><au>Lagresle-Peyrou, Chantal</au><au>Pannicke, Ulrich</au><au>Notarangelo, Luigi D.</au><au>Porta, Fulvio</au><au>Gennery, Andrew R.</au><au>Slatter, Mary</au><au>Cowan, Morton J.</au><au>Stepensky, Polina</au><au>Al-Mousa, Hamoud</au><au>Al-Zahrani, Daifulah</au><au>Pai, Sung-Yun</au><au>Al Herz, Waleed</au><au>Gaspar, Hubert B.</au><au>Veys, Paul</au><au>Oshima, Koichi</au><au>Imai, Kohsuke</au><au>Yabe, Hiromasa</au><au>Noroski, Lenora M.</au><au>Wulffraat, Nico M.</au><au>Sykora, Karl-Walter</au><au>Soler-Palacin, Pere</au><au>Muramatsu, Hideki</au><au>Al Hilali, Mariam</au><au>Moshous, Despina</au><au>Debatin, Klaus-Michael</au><au>Schuetz, Catharina</au><au>Jacobsen, Eva-Maria</au><au>Schulz, Ansgar S.</au><au>Schwarz, Klaus</au><au>Fischer, Alain</au><au>Friedrich, Wilhelm</au><au>Cavazzana, Marina</au><aucorp>European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome</atitle><jtitle>Blood</jtitle><addtitle>Blood</addtitle><date>2017-05-25</date><risdate>2017</risdate><volume>129</volume><issue>21</issue><spage>2928</spage><epage>2938</epage><pages>2928-2938</pages><issn>0006-4971</issn><eissn>1528-0020</eissn><abstract>Reticular dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 were identified to cause the disorder. Hematopoietic stem cell transplantation (HSCT) is the only option to cure this otherwise fatal disease. Retrospective data on clinical presentation, genetics, and outcome of HSCT were collected from centers in Europe, Asia, and North America for a total of 32 patients born between 1982 and 2011. Age at presentation was <4 weeks in 30 of 32 patients (94%). Grafts originated from mismatched family donors in 17 patients (55%), from matched family donors in 6 patients (19%), and from unrelated marrow or umbilical cord blood donors in 8 patients (26%). Thirteen patients received secondary or tertiary transplants. After transplantation, 21 of 31 patients were reported alive at a mean follow-up of 7.9 years (range: 0.6-23.6 years). All patients who died beyond 6 months after HSCT had persistent or recurrent agranulocytosis due to failure of donor myeloid engraftment. In the absence of conditioning, HSCT was ineffective to overcome agranulocytosis, and inclusion of myeloablative components in the conditioning regimens was required to achieve stable lymphomyeloid engraftment. In comparison with other SCID entities, considerable differences were noted regarding age at presentation, onset, and type of infectious complications, as well as the requirement of conditioning prior to HSCT. Although long-term survival is possible in the presence of mixed chimerism, high-level donor myeloid engraftment should be targeted to avoid posttransplant neutropenia.
•Compared with other SCID entities, patients with RD have an earlier presentation with bacterial rather than opportunistic infections.•Myeloablative agents before transplantation support reliable myeloid engraftment and long-term cure in patients with RD.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>28331055</pmid><doi>10.1182/blood-2016-11-745638</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0006-4971 |
| ispartof | Blood, 2017-05, Vol.129 (21), p.2928-2938 |
| issn | 0006-4971 1528-0020 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5445572 |
| source | Elsevier ScienceDirect Journals |
| subjects | Adenylyl Cyclases - genetics Adenylyl Cyclases - metabolism Adolescent Adult Age of Onset Allografts Child Cord Blood Stem Cell Transplantation Disease-Free Survival Female Hematopoietic Stem Cell Transplantation Humans Leukopenia - enzymology Leukopenia - genetics Leukopenia - mortality Leukopenia - therapy Male Severe Combined Immunodeficiency - enzymology Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - mortality Severe Combined Immunodeficiency - therapy Survival Rate Transplantation Transplantation Conditioning Unrelated Donors |
| title | Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-01T03%3A13%3A05IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Reticular%20dysgenesis:%20international%20survey%20on%20clinical%20presentation,%20transplantation,%20and%20outcome&rft.jtitle=Blood&rft.au=Hoenig,%20Manfred&rft.aucorp=European%20Society%20for%20Blood%20and%20Marrow%20Transplantation%20(EBMT)%20Inborn%20Errors%20Working%20Party&rft.date=2017-05-25&rft.volume=129&rft.issue=21&rft.spage=2928&rft.epage=2938&rft.pages=2928-2938&rft.issn=0006-4971&rft.eissn=1528-0020&rft_id=info:doi/10.1182/blood-2016-11-745638&rft_dat=%3Cproquest_pubme%3E1880466207%3C/proquest_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c529t-51c3f40e7f8ecbd768f72f4c8dff1b7e1ebb2b11411f06e0213c8050f89bcfd03%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1880466207&rft_id=info:pmid/28331055&rfr_iscdi=true |