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 : 005370 ( Ncbi/Curation ); précédent : 005369; suivant : 005371Granulomatous 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 [États-Unis] ; Güzide Aksu [Turquie] ; Jacinta Bustamante [France] ; Gulsen Kandiloglu [Turquie] ; Nazan Ozsan [Turquie] ; Mine Hekimgil [Turquie] ; Jean-Laurent Casanova [États-Unis] ; Necil Kutukculer [Turquie]Source :
- Immunotherapy [ 1750-743X ] ; 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
Url:
DOI: 10.2217/imt.12.111
PubMed: 23194362
PubMed Central: 3727650
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PMC:3727650Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term>
<term>Child, Preschool</term>
<term>Consanguinity</term>
<term>DNA Mutational Analysis</term>
<term>Fatal Outcome</term>
<term>Granuloma (genetics)</term>
<term>Granuloma (immunology)</term>
<term>Granuloma (therapy)</term>
<term>Hematopoietic Stem Cell Transplantation</term>
<term>Humans</term>
<term>Hypergammaglobulinemia (genetics)</term>
<term>Hypergammaglobulinemia (immunology)</term>
<term>Hypergammaglobulinemia (therapy)</term>
<term>Infant</term>
<term>Lower Extremity (pathology)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (immunology)</term>
<term>Lymphedema (therapy)</term>
<term>Male</term>
<term>Mycobacterium (immunology)</term>
<term>Mycobacterium avium-intracellulare Infection (genetics)</term>
<term>Mycobacterium avium-intracellulare Infection (immunology)</term>
<term>Mycobacterium avium-intracellulare Infection (therapy)</term>
<term>Pedigree</term>
<term>Receptors, Interferon (genetics)</term>
<term>Scrotum (pathology)</term>
<term>Sequence Deletion (genetics)</term>
<term>Tuberculosis, Cutaneous (genetics)</term>
<term>Tuberculosis, Cutaneous (immunology)</term>
<term>Tuberculosis, Cutaneous (therapy)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN</term>
<term>Consanguinité</term>
<term>Délétion de séquence (génétique)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Granulome ()</term>
<term>Granulome (génétique)</term>
<term>Granulome (immunologie)</term>
<term>Humains</term>
<term>Hypergammaglobulinémie ()</term>
<term>Hypergammaglobulinémie (génétique)</term>
<term>Hypergammaglobulinémie (immunologie)</term>
<term>Infection due à Mycobacterium avium-intracellulare ()</term>
<term>Infection due à Mycobacterium avium-intracellulare (génétique)</term>
<term>Infection due à Mycobacterium avium-intracellulare (immunologie)</term>
<term>Issue fatale</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (génétique)</term>
<term>Lymphoedème (immunologie)</term>
<term>Membre inférieur (anatomopathologie)</term>
<term>Mycobacterium (immunologie)</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Pedigree</term>
<term>Récepteur interféron (génétique)</term>
<term>Scrotum (anatomopathologie)</term>
<term>Transplantation de cellules souches hématopoïétiques</term>
<term>Tuberculose cutanée ()</term>
<term>Tuberculose cutanée (génétique)</term>
<term>Tuberculose cutanée (immunologie)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Interferon</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Membre inférieur</term>
<term>Scrotum</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Granuloma</term>
<term>Hypergammaglobulinemia</term>
<term>Lymphedema</term>
<term>Mycobacterium avium-intracellulare Infection</term>
<term>Sequence Deletion</term>
<term>Tuberculosis, Cutaneous</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Délétion de séquence</term>
<term>Granulome</term>
<term>Hypergammaglobulinémie</term>
<term>Infection due à Mycobacterium avium-intracellulare</term>
<term>Lymphoedème</term>
<term>Récepteur interféron</term>
<term>Tuberculose cutanée</term>
</keywords>
<keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Granulome</term>
<term>Hypergammaglobulinémie</term>
<term>Infection due à Mycobacterium avium-intracellulare</term>
<term>Lymphoedème</term>
<term>Mycobacterium</term>
<term>Tuberculose cutanée</term>
</keywords>
<keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Granuloma</term>
<term>Hypergammaglobulinemia</term>
<term>Lymphedema</term>
<term>Mycobacterium</term>
<term>Mycobacterium avium-intracellulare Infection</term>
<term>Tuberculosis, Cutaneous</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lower Extremity</term>
<term>Scrotum</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Granuloma</term>
<term>Hypergammaglobulinemia</term>
<term>Lymphedema</term>
<term>Mycobacterium avium-intracellulare Infection</term>
<term>Tuberculosis, Cutaneous</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Child, 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>
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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>
</record>
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