Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.
Identifieur interne : 002D41 ( PubMed/Checkpoint ); précédent : 002D40; suivant : 002D42Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.
Auteurs : Perdita Permaul [États-Unis] ; Anupama Narla ; Jason L. Hornick ; Sung-Yun PaiSource :
- Immunologic research [ 0257-277X ] ; 2009.
Descripteurs français
- KwdFr :
- Anti-infectieux (usage thérapeutique), Anti-inflammatoires (usage thérapeutique), Antibactériens (usage thérapeutique), Antifongiques (usage thérapeutique), Association triméthoprime-sulfaméthoxazole (usage thérapeutique), Azithromycine (usage thérapeutique), Ciclosporine (usage thérapeutique), Dysplasie ectodermique (), Dysplasie ectodermique (génétique), Dysplasie ectodermique (traitement médicamenteux), Déficits immunitaires (), Déficits immunitaires (génétique), Déficits immunitaires (traitement médicamenteux), Facteurs immunologiques (usage thérapeutique), Fluconazole (usage thérapeutique), Humains, I-kappa B Kinase (génétique), I-kappa B Kinase (immunologie), Immunoglobulines par voie veineuse (usage thérapeutique), Immunosuppresseurs (usage thérapeutique), Mâle, Méthylprednisolone (usage thérapeutique), Nourrisson, Résultat thérapeutique, Transplantation de cellules souches hématopoïétiques, Transplantation homologue.
- MESH :
- génétique : Dysplasie ectodermique, Déficits immunitaires, I-kappa B Kinase.
- immunologie : I-kappa B Kinase.
- traitement médicamenteux : Dysplasie ectodermique, Déficits immunitaires.
- usage thérapeutique : Anti-infectieux, Anti-inflammatoires, Antibactériens, Antifongiques, Association triméthoprime-sulfaméthoxazole, Azithromycine, Ciclosporine, Facteurs immunologiques, Fluconazole, Immunoglobulines par voie veineuse, Immunosuppresseurs, Méthylprednisolone.
- Dysplasie ectodermique, Déficits immunitaires, Humains, Mâle, Nourrisson, Résultat thérapeutique, Transplantation de cellules souches hématopoïétiques, Transplantation homologue.
English descriptors
- KwdEn :
- Anti-Bacterial Agents (therapeutic use), Anti-Infective Agents (therapeutic use), Anti-Inflammatory Agents (therapeutic use), Antifungal Agents (therapeutic use), Azithromycin (therapeutic use), Cyclosporine (therapeutic use), Ectodermal Dysplasia (drug therapy), Ectodermal Dysplasia (genetics), Ectodermal Dysplasia (surgery), Fluconazole (therapeutic use), Hematopoietic Stem Cell Transplantation, Humans, I-kappa B Kinase (genetics), I-kappa B Kinase (immunology), Immunoglobulins, Intravenous (therapeutic use), Immunologic Deficiency Syndromes (drug therapy), Immunologic Deficiency Syndromes (genetics), Immunologic Deficiency Syndromes (surgery), Immunologic Factors (therapeutic use), Immunosuppressive Agents (therapeutic use), Infant, Male, Methylprednisolone (therapeutic use), Transplantation, Homologous, Treatment Outcome, Trimethoprim, Sulfamethoxazole Drug Combination (therapeutic use).
- MESH :
- chemical , genetics : I-kappa B Kinase.
- chemical , immunology : I-kappa B Kinase.
- chemical , therapeutic use : Anti-Bacterial Agents, Anti-Infective Agents, Anti-Inflammatory Agents, Antifungal Agents, Azithromycin, Cyclosporine, Fluconazole, Immunoglobulins, Intravenous, Immunologic Factors, Immunosuppressive Agents, Methylprednisolone, Trimethoprim, Sulfamethoxazole Drug Combination.
- drug therapy : Ectodermal Dysplasia, Immunologic Deficiency Syndromes.
- genetics : Ectodermal Dysplasia, Immunologic Deficiency Syndromes.
- surgery : Ectodermal Dysplasia, Immunologic Deficiency Syndromes.
- Hematopoietic Stem Cell Transplantation, Humans, Infant, Male, Transplantation, Homologous, Treatment Outcome.
Abstract
Hypomorphic mutations in nuclear factor kappa B essential modulator (NEMO) cause X-linked ectodermal dysplasia with immunodeficiency (X-ED-ID). Clinical manifestations in boys with X-ED-ID apart from ectodermal dysplasia and immunodeficiency include osteopetrosis, lymphedema, and colitis. Further description of atypical findings in this disorder is needed. Treatment with allogeneic hematopoietic stem cell transplantation (HSCT) is in its infancy, and how or whether non-immune manifestations of defective NEMO function are impacted by HSCT is poorly described. We report an interesting case of a boy with NEMO mutation who had symptoms reminiscent of Omenn's syndrome and small intestinal villous atrophy with features reminiscent of tufting enteropathy. We describe his treatment course as well as reconstitution of immune function and correction of osteopetrosis post-HSCT, and review the cases of allogeneic HSCT reported to date in the literature.
DOI: 10.1007/s12026-008-8085-2
PubMed: 19225723
Affiliations:
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Clinical manifestations in boys with X-ED-ID apart from ectodermal dysplasia and immunodeficiency include osteopetrosis, lymphedema, and colitis. Further description of atypical findings in this disorder is needed. Treatment with allogeneic hematopoietic stem cell transplantation (HSCT) is in its infancy, and how or whether non-immune manifestations of defective NEMO function are impacted by HSCT is poorly described. We report an interesting case of a boy with NEMO mutation who had symptoms reminiscent of Omenn's syndrome and small intestinal villous atrophy with features reminiscent of tufting enteropathy. We describe his treatment course as well as reconstitution of immune function and correction of osteopetrosis post-HSCT, and review the cases of allogeneic HSCT reported to date in the literature.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">19225723</PMID><DateCreated><Year>2009</Year><Month>06</Month><Day>02</Day></DateCreated><DateCompleted><Year>2009</Year><Month>09</Month><Day>08</Day></DateCompleted><DateRevised><Year>2015</Year><Month>11</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0257-277X</ISSN><JournalIssue CitedMedium="Print"><Volume>44</Volume><Issue>1-3</Issue><PubDate><Year>2009</Year></PubDate></JournalIssue><Title>Immunologic research</Title><ISOAbbreviation>Immunol. Res.</ISOAbbreviation></Journal><ArticleTitle>Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.</ArticleTitle><Pagination><MedlinePgn>89-98</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s12026-008-8085-2</ELocationID><Abstract><AbstractText>Hypomorphic mutations in nuclear factor kappa B essential modulator (NEMO) cause X-linked ectodermal dysplasia with immunodeficiency (X-ED-ID). Clinical manifestations in boys with X-ED-ID apart from ectodermal dysplasia and immunodeficiency include osteopetrosis, lymphedema, and colitis. Further description of atypical findings in this disorder is needed. Treatment with allogeneic hematopoietic stem cell transplantation (HSCT) is in its infancy, and how or whether non-immune manifestations of defective NEMO function are impacted by HSCT is poorly described. We report an interesting case of a boy with NEMO mutation who had symptoms reminiscent of Omenn's syndrome and small intestinal villous atrophy with features reminiscent of tufting enteropathy. 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Transplantation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051550" MajorTopicYN="N">I-kappa B Kinase</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000276" MajorTopicYN="N">immunology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016756" MajorTopicYN="N">Immunoglobulins, Intravenous</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007153" MajorTopicYN="N">Immunologic Deficiency Syndromes</DescriptorName><QualifierName UI="Q000188" MajorTopicYN="N">drug therapy</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000601" MajorTopicYN="Y">surgery</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007155" MajorTopicYN="N">Immunologic 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Combination</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading></MeshHeadingList><NumberOfReferences>29</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>2</Month><Day>20</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>2</Month><Day>20</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>9</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">19225723</ArticleId><ArticleId IdType="doi">10.1007/s12026-008-8085-2</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Massachusetts</li></region></list><tree><noCountry><name sortKey="Hornick, Jason L" sort="Hornick, Jason L" uniqKey="Hornick J" first="Jason L" last="Hornick">Jason L. Hornick</name><name sortKey="Narla, Anupama" sort="Narla, Anupama" uniqKey="Narla A" first="Anupama" last="Narla">Anupama Narla</name><name sortKey="Pai, Sung Yun" sort="Pai, Sung Yun" uniqKey="Pai S" first="Sung-Yun" last="Pai">Sung-Yun Pai</name></noCountry><country name="États-Unis"><region name="Massachusetts"><name sortKey="Permaul, Perdita" sort="Permaul, Perdita" uniqKey="Permaul P" first="Perdita" last="Permaul">Perdita Permaul</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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