Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency.
Identifieur interne : 000269 ( PubMed/Checkpoint ); précédent : 000268; suivant : 000270Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency.
Auteurs : Samuele Naviglio [Italie] ; Elena Soncini [Italie] ; Donatella Vairo [Italie] ; Arnalda Lanfranchi [Italie] ; Raffaele Badolato [Italie] ; Fulvio Porta [Italie]Source :
- Journal of clinical immunology [ 1573-2592 ] ; 2017.
Abstract
Complete signal transducer and activator of transcription 1 (STAT1) deficiency is a rare autosomal recessive condition characterized by impairment of intracellular signaling from both type I and type II interferons (IFN). Affected patients are prone to early severe mycobacterial and viral infections, which usually result in death before 18 months of age. We previously reported a patient affected by complete STAT1 deficiency who underwent hematopoietic stem cell transplantation (HSCT). Here, we describe the transplantation procedures and long-term outcomes.
DOI: 10.1007/s10875-017-0430-6
PubMed: 28815344
Affiliations:
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Oncoematologia pediatrica e Trapianto di Midollo osseo, Asst Spedali Civili, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>U.O. Oncoematologia pediatrica e Trapianto di Midollo osseo, Asst Spedali Civili, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Vairo, Donatella" sort="Vairo, Donatella" uniqKey="Vairo D" first="Donatella" last="Vairo">Donatella Vairo</name><affiliation wicri:level="1"><nlm:affiliation>Istituto di Medicina Molecolare "Angelo Nocivelli", Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Medicina Molecolare "Angelo Nocivelli", Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Lanfranchi, Arnalda" sort="Lanfranchi, Arnalda" uniqKey="Lanfranchi A" first="Arnalda" last="Lanfranchi">Arnalda Lanfranchi</name><affiliation wicri:level="1"><nlm:affiliation>U.O. Laboratorio di Analisi chimico cliniche, Sezione di Ematologia Lab, Cellule staminali, Asst Spedali Civili, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>U.O. Laboratorio di Analisi chimico cliniche, Sezione di Ematologia Lab, Cellule staminali, Asst Spedali Civili, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Badolato, Raffaele" sort="Badolato, Raffaele" uniqKey="Badolato R" first="Raffaele" last="Badolato">Raffaele Badolato</name><affiliation wicri:level="1"><nlm:affiliation>Istituto di Medicina Molecolare "Angelo Nocivelli", Brescia, Italy. raffaele.badolato@unibs.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Medicina Molecolare "Angelo Nocivelli", Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Porta, Fulvio" sort="Porta, Fulvio" uniqKey="Porta F" first="Fulvio" last="Porta">Fulvio Porta</name><affiliation wicri:level="1"><nlm:affiliation>U.O. Oncoematologia pediatrica e Trapianto di Midollo osseo, Asst Spedali Civili, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>U.O. Oncoematologia pediatrica e Trapianto di Midollo osseo, Asst Spedali Civili, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of clinical immunology</title><idno type="eISSN">1573-2592</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Complete signal transducer and activator of transcription 1 (STAT1) deficiency is a rare autosomal recessive condition characterized by impairment of intracellular signaling from both type I and type II interferons (IFN). Affected patients are prone to early severe mycobacterial and viral infections, which usually result in death before 18 months of age. We previously reported a patient affected by complete STAT1 deficiency who underwent hematopoietic stem cell transplantation (HSCT). Here, we describe the transplantation procedures and long-term outcomes.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">28815344</PMID><DateCreated><Year>2017</Year><Month>08</Month><Day>17</Day></DateCreated><DateRevised><Year>2017</Year><Month>08</Month><Day>17</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1573-2592</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2017</Year><Month>Aug</Month><Day>16</Day></PubDate></JournalIssue><Title>Journal of clinical immunology</Title><ISOAbbreviation>J. Clin. Immunol.</ISOAbbreviation></Journal><ArticleTitle>Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency.</ArticleTitle><ELocationID EIdType="doi" ValidYN="Y">10.1007/s10875-017-0430-6</ELocationID><Abstract><AbstractText Label="PURPOSE" NlmCategory="OBJECTIVE">Complete signal transducer and activator of transcription 1 (STAT1) deficiency is a rare autosomal recessive condition characterized by impairment of intracellular signaling from both type I and type II interferons (IFN). Affected patients are prone to early severe mycobacterial and viral infections, which usually result in death before 18 months of age. We previously reported a patient affected by complete STAT1 deficiency who underwent hematopoietic stem cell transplantation (HSCT). Here, we describe the transplantation procedures and long-term outcomes.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">The patient, who had suffered multiple life-threatening mycobacterial and viral infections in the first years of life, underwent HSCT at 4 years of age from a partially matched (HLA compatibility 8/10) unrelated donor after a myeloablative conditioning regimen consisting of busulfan, cyclophosphamide, and anti-thymocyte globulin.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Hematological reconstitution was detected at d+15, with full donor engraftment demonstrated by molecular analysis of leukocytes. Several complications occurred in the post-transplantation phase, including acute graft versus host disease, posterior reversible encephalopathy, thrombotic thrombocytopenic purpura, bilateral keratoconjunctivitis with complete loss of vision, and chronic lower limb lymphedema. Analysis of STAT1 in CD3(+) cells at 90 and 120 days after HSCT by flow cytometry showed normal STAT1 phosphorylation levels in response to IFN-α.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Notably, no severe infections occurred after discharge (day + 90) during a 9-year follow-up, suggesting that normal response to IFNs in hematopoietic cells is sufficient to provide protection in humans.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Naviglio</LastName><ForeName>Samuele</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Soncini</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>U.O. Oncoematologia pediatrica e Trapianto di Midollo osseo, Asst Spedali Civili, Brescia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vairo</LastName><ForeName>Donatella</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Istituto di Medicina Molecolare "Angelo Nocivelli", Brescia, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lanfranchi</LastName><ForeName>Arnalda</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>U.O. Laboratorio di Analisi chimico cliniche, Sezione di Ematologia Lab, Cellule staminali, Asst Spedali Civili, Brescia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Badolato</LastName><ForeName>Raffaele</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Istituto di Medicina Molecolare "Angelo Nocivelli", Brescia, Italy. raffaele.badolato@unibs.it.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Experimental and Clinical Sciences, University of Brescia, Brescia, Italy. raffaele.badolato@unibs.it.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Clinica pediatrica, Asst Spedali Civili, P.le Spedali civili 1, 25123, Brescia, Italy. raffaele.badolato@unibs.it.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Porta</LastName><ForeName>Fulvio</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>U.O. Oncoematologia pediatrica e Trapianto di Midollo osseo, Asst Spedali Civili, Brescia, Italy.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>08</Month><Day>16</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>J Clin Immunol</MedlineTA><NlmUniqueID>8102137</NlmUniqueID><ISSNLinking>0271-9142</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Hematopoietic stem cell transplantation</Keyword><Keyword MajorTopicYN="N">Primary immunodeficiency</Keyword><Keyword MajorTopicYN="N">STAT1 deficiency</Keyword><Keyword MajorTopicYN="N">Signaling</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2017</Year><Month>03</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>08</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>8</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>8</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>8</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>aheadofprint</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28815344</ArticleId><ArticleId IdType="doi">10.1007/s10875-017-0430-6</ArticleId><ArticleId IdType="pii">10.1007/s10875-017-0430-6</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Italie</li></country></list><tree><country name="Italie"><noRegion><name sortKey="Naviglio, Samuele" sort="Naviglio, Samuele" uniqKey="Naviglio S" first="Samuele" last="Naviglio">Samuele Naviglio</name></noRegion><name sortKey="Badolato, Raffaele" sort="Badolato, Raffaele" uniqKey="Badolato R" first="Raffaele" last="Badolato">Raffaele Badolato</name><name sortKey="Lanfranchi, Arnalda" sort="Lanfranchi, Arnalda" uniqKey="Lanfranchi A" first="Arnalda" last="Lanfranchi">Arnalda Lanfranchi</name><name sortKey="Porta, Fulvio" sort="Porta, Fulvio" uniqKey="Porta F" first="Fulvio" last="Porta">Fulvio Porta</name><name sortKey="Soncini, Elena" sort="Soncini, Elena" uniqKey="Soncini E" first="Elena" last="Soncini">Elena Soncini</name><name sortKey="Vairo, Donatella" sort="Vairo, Donatella" uniqKey="Vairo D" first="Donatella" last="Vairo">Donatella Vairo</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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