LymphedemaV1, Pmc, Corpus, bibRecord, 003565

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 : 003565 ( Pmc/Corpus ); précédent : 003564; suivant : 003566

Granulomatous 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 ; Stephanie Boisson-Dupuis ; Güzide Aksu ; Jacinta Bustamante ; Gulsen Kandiloglu ; Nazan Ozsan ; Mine Hekimgil ; Jean-Laurent Casanova ; Necil Kutukculer

Source :

Immunotherapy [ 1750-743X ] ; 2012.

RBID : PMC:3727650

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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727650

DOI: 10.2217/imt.12.111
PubMed: 23194362
PubMed Central: 3727650

Links to Exploration step

PMC:3727650

Le document en format XML

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<author><name sortKey="Karaca, Neslihan Edeer" sort="Karaca, Neslihan Edeer" uniqKey="Karaca N" first="Neslihan Edeer" last="Karaca">Neslihan Edeer Karaca</name>
<affiliation><nlm:aff id="A1">Department of Pediatric Immunology, Ege University, 35100 Bornova, Izmir, Turkey</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stephanie" last="Boisson-Dupuis">Stephanie Boisson-Dupuis</name>
<affiliation><nlm:aff id="A2">The Rockefeller University, Laboratory of Human Genetics of Infectious Diseases, NY, USA</nlm:aff>
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<author><name sortKey="Aksu, Guzide" sort="Aksu, Guzide" uniqKey="Aksu G" first="Güzide" last="Aksu">Güzide Aksu</name>
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<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
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<author><name sortKey="Kandiloglu, Gulsen" sort="Kandiloglu, Gulsen" uniqKey="Kandiloglu G" first="Gulsen" last="Kandiloglu">Gulsen Kandiloglu</name>
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<author><name sortKey="Ozsan, Nazan" sort="Ozsan, Nazan" uniqKey="Ozsan N" first="Nazan" last="Ozsan">Nazan Ozsan</name>
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<author><name sortKey="Kutukculer, Necil" sort="Kutukculer, Necil" uniqKey="Kutukculer N" first="Necil" last="Kutukculer">Necil Kutukculer</name>
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<author><name sortKey="Karaca, Neslihan Edeer" sort="Karaca, Neslihan Edeer" uniqKey="Karaca N" first="Neslihan Edeer" last="Karaca">Neslihan Edeer Karaca</name>
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<author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stephanie" last="Boisson-Dupuis">Stephanie Boisson-Dupuis</name>
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</affiliation>
</author>
<author><name sortKey="Aksu, Guzide" sort="Aksu, Guzide" uniqKey="Aksu G" first="Güzide" last="Aksu">Güzide Aksu</name>
<affiliation><nlm:aff id="A1">Department of Pediatric Immunology, Ege University, 35100 Bornova, Izmir, Turkey</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
<affiliation><nlm:aff id="A3">Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U980, Faculté de Médecine Necker, Paris, France</nlm:aff>
</affiliation>
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<author><name sortKey="Kandiloglu, Gulsen" sort="Kandiloglu, Gulsen" uniqKey="Kandiloglu G" first="Gulsen" last="Kandiloglu">Gulsen Kandiloglu</name>
<affiliation><nlm:aff id="A4">Department of Pathology, Ege University, Izmir, Turkey</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ozsan, Nazan" sort="Ozsan, Nazan" uniqKey="Ozsan N" first="Nazan" last="Ozsan">Nazan Ozsan</name>
<affiliation><nlm:aff id="A4">Department of Pathology, Ege University, Izmir, Turkey</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hekimgil, Mine" sort="Hekimgil, Mine" uniqKey="Hekimgil M" first="Mine" last="Hekimgil">Mine Hekimgil</name>
<affiliation><nlm:aff id="A4">Department of Pathology, Ege University, Izmir, Turkey</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<affiliation><nlm:aff id="A2">The Rockefeller University, Laboratory of Human Genetics of Infectious Diseases, NY, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kutukculer, Necil" sort="Kutukculer, Necil" uniqKey="Kutukculer N" first="Necil" last="Kutukculer">Necil Kutukculer</name>
<affiliation><nlm:aff id="A1">Department of Pediatric Immunology, Ege University, 35100 Bornova, Izmir, Turkey</nlm:aff>
</affiliation>
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<series><title level="j">Immunotherapy</title>
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<front><div type="abstract" xml:lang="en"><p id="P1">Interferon-γ receptor-1 (IFNγR1) deficiency is caused by mutations in the <italic>IFN</italic>
γ<italic>R1</italic>
 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive <italic>IFN</italic>
γ<italic>R1</italic>
 deficiency, afflicted by recurrent mycobacterial diseases with <italic>Mycobacterium bovis</italic>
, <italic>Mycobacterium tuberculosis</italic>
, <italic>Mycobacterium avium intracellulare</italic>
 and <italic>Mycobacterium fortuitum</italic>
. Genetic analysis showed a homozygous mutation (106insT) in the <italic>IFN</italic>
γ<italic>R1</italic>
 gene leading to complete IFNγR1 deficiency. In addition, he had atypical mycobacterial skin lesions caused by <italic>M. avium intracellulare</italic>
 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.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <pmc-dir>properties manuscript</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-journal-id">101485158</journal-id>
<journal-id journal-id-type="pubmed-jr-id">36319</journal-id>
<journal-id journal-id-type="nlm-ta">Immunotherapy</journal-id>
<journal-id journal-id-type="iso-abbrev">Immunotherapy</journal-id>
<journal-title-group><journal-title>Immunotherapy</journal-title>
</journal-title-group>
<issn pub-type="ppub">1750-743X</issn>
<issn pub-type="epub">1750-7448</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">23194362</article-id>
<article-id pub-id-type="pmc">3727650</article-id>
<article-id pub-id-type="doi">10.2217/imt.12.111</article-id>
<article-id pub-id-type="manuscript">NIHMS489587</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Karaca</surname>
<given-names>Neslihan Edeer</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref rid="FN1" ref-type="author-notes">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Boisson-Dupuis</surname>
<given-names>Stephanie</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Aksu</surname>
<given-names>Güzide</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bustamante</surname>
<given-names>Jacinta</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kandiloglu</surname>
<given-names>Gulsen</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ozsan</surname>
<given-names>Nazan</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hekimgil</surname>
<given-names>Mine</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Casanova</surname>
<given-names>Jean-Laurent</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kutukculer</surname>
<given-names>Necil</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Pediatric Immunology, Ege University, 35100 Bornova, Izmir, Turkey</aff>
<aff id="A2"><label>2</label>
The Rockefeller University, Laboratory of Human Genetics of Infectious Diseases, NY, USA</aff>
<aff id="A3"><label>3</label>
Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U980, Faculté de Médecine Necker, Paris, France</aff>
<aff id="A4"><label>4</label>
Department of Pathology, Ege University, Izmir, Turkey</aff>
<author-notes><corresp id="FN1"><label>*</label>
Author for correspondence: Tel.: +90 2323 901 437 <email>neslihanedeer@gmail.com</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>8</day>
<month>7</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="ppub"><month>11</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>01</day>
<month>9</month>
<year>2013</year>
</pub-date>
<volume>4</volume>
<issue>11</issue>
<fpage>1121</fpage>
<lpage>1127</lpage>
<permissions><copyright-statement>© 2012 Future Medicine Ltd</copyright-statement>
<copyright-year>2012</copyright-year>
</permissions>
<abstract><p id="P1">Interferon-γ receptor-1 (IFNγR1) deficiency is caused by mutations in the <italic>IFN</italic>
γ<italic>R1</italic>
 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive <italic>IFN</italic>
γ<italic>R1</italic>
 deficiency, afflicted by recurrent mycobacterial diseases with <italic>Mycobacterium bovis</italic>
, <italic>Mycobacterium tuberculosis</italic>
, <italic>Mycobacterium avium intracellulare</italic>
 and <italic>Mycobacterium fortuitum</italic>
. Genetic analysis showed a homozygous mutation (106insT) in the <italic>IFN</italic>
γ<italic>R1</italic>
 gene leading to complete IFNγR1 deficiency. In addition, he had atypical mycobacterial skin lesions caused by <italic>M. avium intracellulare</italic>
 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.</p>
</abstract>
<kwd-group><kwd>atypical mycobacteria</kwd>
<kwd>IL–12/IFN–γ pathway</kwd>
<kwd>lymphedema</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Institute of Allergy and Infectious Diseases Extramural Activities : NIAID</funding-source>
<award-id>R01 AI089970 || AI</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>

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Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency

Source :

Abstract

Links to Exploration step

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Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

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