Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.
Identifieur interne : 001E33 ( PubMed/Curation ); précédent : 001E32; suivant : 001E34Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.
Auteurs : Neslihan Edeer Karaca [Turquie] ; Stephanie Boisson-Dupuis ; Güzide Aksu ; Jacinta Bustamante ; Gulsen Kandiloglu ; Nazan Ozsan ; Mine Hekimgil ; Jean-Laurent Casanova ; Necil KutukculerSource :
- Immunotherapy [ 1750-7448 ] ; 2012.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Consanguinité, Délétion de séquence (génétique), Enfant, Enfant d'âge préscolaire, Granulome (), Granulome (génétique), Granulome (immunologie), Humains, Hypergammaglobulinémie (), Hypergammaglobulinémie (génétique), Hypergammaglobulinémie (immunologie), Infection due à Mycobacterium avium-intracellulare (), Infection due à Mycobacterium avium-intracellulare (génétique), Infection due à Mycobacterium avium-intracellulare (immunologie), Issue fatale, Lymphoedème (), Lymphoedème (génétique), Lymphoedème (immunologie), Membre inférieur (anatomopathologie), Mycobacterium (immunologie), Mâle, Nourrisson, Pedigree, Récepteur interféron (génétique), Scrotum (anatomopathologie), Transplantation de cellules souches hématopoïétiques, Tuberculose cutanée (), Tuberculose cutanée (génétique), Tuberculose cutanée (immunologie).
- MESH :
- anatomopathologie : Membre inférieur, Scrotum.
- génétique : Délétion de séquence, Granulome, Hypergammaglobulinémie, Infection due à Mycobacterium avium-intracellulare, Lymphoedème, Récepteur interféron, Tuberculose cutanée.
- immunologie : Granulome, Hypergammaglobulinémie, Infection due à Mycobacterium avium-intracellulare, Lymphoedème, Mycobacterium, Tuberculose cutanée.
- Analyse de mutations d'ADN, Consanguinité, Enfant, Enfant d'âge préscolaire, Granulome, Humains, Hypergammaglobulinémie, Infection due à Mycobacterium avium-intracellulare, Issue fatale, Lymphoedème, Mâle, Nourrisson, Pedigree, Transplantation de cellules souches hématopoïétiques, Tuberculose cutanée.
English descriptors
- KwdEn :
- Child, Child, Preschool, Consanguinity, DNA Mutational Analysis, Fatal Outcome, Granuloma (genetics), Granuloma (immunology), Granuloma (therapy), Hematopoietic Stem Cell Transplantation, Humans, Hypergammaglobulinemia (genetics), Hypergammaglobulinemia (immunology), Hypergammaglobulinemia (therapy), Infant, Lower Extremity (pathology), Lymphedema (genetics), Lymphedema (immunology), Lymphedema (therapy), Male, Mycobacterium (immunology), Mycobacterium avium-intracellulare Infection (genetics), Mycobacterium avium-intracellulare Infection (immunology), Mycobacterium avium-intracellulare Infection (therapy), Pedigree, Receptors, Interferon (genetics), Scrotum (pathology), Sequence Deletion (genetics), Tuberculosis, Cutaneous (genetics), Tuberculosis, Cutaneous (immunology), Tuberculosis, Cutaneous (therapy).
- MESH :
- chemical , genetics : Receptors, Interferon.
- genetics : Granuloma, Hypergammaglobulinemia, Lymphedema, Mycobacterium avium-intracellulare Infection, Sequence Deletion, Tuberculosis, Cutaneous.
- immunology : Granuloma, Hypergammaglobulinemia, Lymphedema, Mycobacterium, Mycobacterium avium-intracellulare Infection, Tuberculosis, Cutaneous.
- pathology : Lower Extremity, Scrotum.
- therapy : Granuloma, Hypergammaglobulinemia, Lymphedema, Mycobacterium avium-intracellulare Infection, Tuberculosis, Cutaneous.
- Child, Child, Preschool, Consanguinity, DNA Mutational Analysis, Fatal Outcome, Hematopoietic Stem Cell Transplantation, Humans, Infant, Male, Pedigree.
Abstract
Interferon-γ receptor-1 (IFNγR1) deficiency is caused by mutations in the IFNγR1 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive IFNγR1 deficiency, afflicted by recurrent mycobacterial diseases with Mycobacterium bovis, Mycobacterium tuberculosis, Mycobacterium avium intracellulare and Mycobacterium fortuitum. Genetic analysis showed a homozygous mutation (106insT) in the IFNγR1 gene leading to complete IFNγR1 deficiency. In addition, he had atypical mycobacterial skin lesions caused by M. avium intracellulare and developed scrotal and lower limb lymphedema secondary to compression of large and fixed inguinal lymphadenopathies. Hematopoietic stem cell transplantation was performed from a matched unrelated donor at 5 years of age; however, he died at 9 months post-transplant. To our knowledge, the patient is the first case with IL-12/IFN-γ pathway defect and severe lymphedema. We have also reviewed and summarized the literature related with IFNγR1 deficiency.
DOI: 10.2217/imt.12.111
PubMed: 23194362
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Preschool</term><term>Consanguinity</term><term>DNA Mutational Analysis</term><term>Fatal Outcome</term><term>Hematopoietic Stem Cell Transplantation</term><term>Humans</term><term>Infant</term><term>Male</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Consanguinité</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Granulome</term><term>Humains</term><term>Hypergammaglobulinémie</term><term>Infection due à Mycobacterium avium-intracellulare</term><term>Issue fatale</term><term>Lymphoedème</term><term>Mâle</term><term>Nourrisson</term><term>Pedigree</term><term>Transplantation de cellules souches hématopoïétiques</term><term>Tuberculose cutanée</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Interferon-γ receptor-1 (IFNγR1) deficiency is caused by mutations in the IFNγR1 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive IFNγR1 deficiency, afflicted by recurrent mycobacterial diseases with Mycobacterium bovis, Mycobacterium tuberculosis, Mycobacterium avium intracellulare and Mycobacterium fortuitum. Genetic analysis showed a homozygous mutation (106insT) in the IFNγR1 gene leading to complete IFNγR1 deficiency. In addition, he had atypical mycobacterial skin lesions caused by M. avium intracellulare and developed scrotal and lower limb lymphedema secondary to compression of large and fixed inguinal lymphadenopathies. Hematopoietic stem cell transplantation was performed from a matched unrelated donor at 5 years of age; however, he died at 9 months post-transplant. To our knowledge, the patient is the first case with IL-12/IFN-γ pathway defect and severe lymphedema. We have also reviewed and summarized the literature related with IFNγR1 deficiency.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23194362</PMID><DateCreated><Year>2012</Year><Month>11</Month><Day>30</Day></DateCreated><DateCompleted><Year>2013</Year><Month>05</Month><Day>09</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1750-7448</ISSN><JournalIssue CitedMedium="Internet"><Volume>4</Volume><Issue>11</Issue><PubDate><Year>2012</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Immunotherapy</Title><ISOAbbreviation>Immunotherapy</ISOAbbreviation></Journal><ArticleTitle>Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.</ArticleTitle><Pagination><MedlinePgn>1121-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.2217/imt.12.111</ELocationID><Abstract><AbstractText>Interferon-γ receptor-1 (IFNγR1) deficiency is caused by mutations in the IFNγR1 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive IFNγR1 deficiency, afflicted by recurrent mycobacterial diseases with Mycobacterium bovis, Mycobacterium tuberculosis, Mycobacterium avium intracellulare and Mycobacterium fortuitum. Genetic analysis showed a homozygous mutation (106insT) in the IFNγR1 gene leading to complete IFNγR1 deficiency. In addition, he had atypical mycobacterial skin lesions caused by M. avium intracellulare and developed scrotal and lower limb lymphedema secondary to compression of large and fixed inguinal lymphadenopathies. Hematopoietic stem cell transplantation was performed from a matched unrelated donor at 5 years of age; however, he died at 9 months post-transplant. To our knowledge, the patient is the first case with IL-12/IFN-γ pathway defect and severe lymphedema. We have also reviewed and summarized the literature related with IFNγR1 deficiency.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Edeer Karaca</LastName><ForeName>Neslihan</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Pediatric Immunology, Ege University, 35100 Bornova, Izmir, Turkey. neslihanedeer@gmail.com</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boisson-Dupuis</LastName><ForeName>Stephanie</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Aksu</LastName><ForeName>Güzide</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Bustamante</LastName><ForeName>Jacinta</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Kandiloglu</LastName><ForeName>Gulsen</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Ozsan</LastName><ForeName>Nazan</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Hekimgil</LastName><ForeName>Mine</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Casanova</LastName><ForeName>Jean-Laurent</ForeName><Initials>JL</Initials></Author><Author ValidYN="Y"><LastName>Kutukculer</LastName><ForeName>Necil</ForeName><Initials>N</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 AI089970</GrantID><Acronym>AI</Acronym><Agency>NIAID NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Immunotherapy</MedlineTA><NlmUniqueID>101485158</NlmUniqueID><ISSNLinking>1750-743X</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017471">Receptors, Interferon</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C078577">interferon gamma receptor</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Pediatrics. 2002 Jun;109(6):e97</RefSource><PMID Version="1">12042591</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Annu Rev Immunol. 2002;20:581-620</RefSource><PMID Version="1">11861613</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2003 Oct 1;102(7):2692-4</RefSource><PMID Version="1">12805054</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Pediatr. 2004 Apr;144(4):519-23</RefSource><PMID Version="1">15069403</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Intern Med. 1974 Oct;134(4):769-70</RefSource><PMID Version="1">4416038</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Br Med J. 1974 Sep 28;3(5934):786</RefSource><PMID Version="1">4213518</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 1996 Dec 26;335(26):1941-9</RefSource><PMID Version="1">8960473</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 1996 Dec 26;335(26):1956-61</RefSource><PMID Version="1">8960475</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet. 2004 Dec 11-17;364(9451):2113-21</RefSource><PMID Version="1">15589309</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7</RefSource><PMID Version="1">15608251</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Immunol Rev. 2005 Feb;203:38-47</RefSource><PMID Version="1">15661020</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Pediatr. 2005 Dec;164(12):753-7</RefSource><PMID Version="1">16091917</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Pediatr. 2006 Mar;148(3):407-9</RefSource><PMID Version="1">16615980</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Semin Immunol. 2006 Dec;18(6):347-61</RefSource><PMID Version="1">16997570</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Allergy Clin Immunol. 2007 Jul;120(1):32-8</RefSource><PMID Version="1">17544093</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS Med. 2008 Jan 29;5(1):e26</RefSource><PMID Version="1">18232731</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Immunol Rev. 2008 Dec;226:29-40</RefSource><PMID Version="1">19161414</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Immunol. 2009 Mar;29(2):238-45</RefSource><PMID Version="1">18972195</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Immunol Res. 2009;44(1-3):89-98</RefSource><PMID Version="1">19225723</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatr Infect Dis J. 2009 Jul;28(7):658-60</RefSource><PMID Version="1">19451859</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2010 Sep;47(9):631-4</RefSource><PMID Version="1">20587411</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Pediatr. 2010 Nov;169(11):1403-7</RefSource><PMID Version="1">20499091</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Clin Physiol Funct Imaging. 2010 Nov;30(6):389-98</RefSource><PMID Version="1">20718809</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann N Y Acad Sci. 2011 Dec;1246:92-101</RefSource><PMID Version="1">22236433</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med. 2012 Feb;125(2):134-40</RefSource><PMID Version="1">22269614</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Scand J Immunol. 2012 Mar;75(3):329-35</RefSource><PMID Version="1">21995335</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2002 Dec 1;100(12):4234-5</RefSource><PMID Version="1">12393576</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, 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