LymphedemaV1, France, Analysis, bibRecord, 000225

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 : 000225 ( France/Analysis ); précédent : 000224; suivant : 000226

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 [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.

RBID : PMC:3727650

Descripteurs français

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.

Url:

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

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

Affiliations:

Links to Exploration step

PMC:3727650

Le 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>
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<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>
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<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>
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<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>
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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>
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</noRegion>
<name sortKey="Aksu, Guzide" sort="Aksu, Guzide" uniqKey="Aksu G" first="Güzide" last="Aksu">Güzide Aksu</name>
<name sortKey="Hekimgil, Mine" sort="Hekimgil, Mine" uniqKey="Hekimgil M" first="Mine" last="Hekimgil">Mine Hekimgil</name>
<name sortKey="Kandiloglu, Gulsen" sort="Kandiloglu, Gulsen" uniqKey="Kandiloglu G" first="Gulsen" last="Kandiloglu">Gulsen Kandiloglu</name>
<name sortKey="Kutukculer, Necil" sort="Kutukculer, Necil" uniqKey="Kutukculer N" first="Necil" last="Kutukculer">Necil Kutukculer</name>
<name sortKey="Ozsan, Nazan" sort="Ozsan, Nazan" uniqKey="Ozsan N" first="Nazan" last="Ozsan">Nazan Ozsan</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stephanie" last="Boisson-Dupuis">Stephanie Boisson-Dupuis</name>
</noRegion>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000225 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000225 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     PMC:3727650
   |texte=   Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:23194362" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

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 :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.