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

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dc.contributor.authorKaraca, Neslihan Edeer
dc.contributor.authorBoisson-Dupuis, Stephanie
dc.contributor.authorAksu, Guzide
dc.contributor.authorBustamante, Jacinta
dc.contributor.authorKandiloglu, Gulsen
dc.contributor.authorOzsan, Nazan
dc.contributor.authorHekimgil, Mine
dc.contributor.authorCasanova, Jean-Laurent
dc.contributor.authorKutukculer, Necil
dc.date.accessioned2019-10-27T21:40:56Z
dc.date.available2019-10-27T21:40:56Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractInterferon-gamma receptor-1 (IFN gamma R1) deficiency is caused by mutations in the IFN gamma R1 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive IFN gamma R1 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 IFN gamma R1 gene leading to complete IFN gamma R1 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-gamma pathway defect and severe lymphedema. We have also reviewed and summarized the literature related with IFN gamma R1 deficiency.en_US
dc.description.sponsorshipNIAID NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Allergy & Infectious Diseases (NIAID) [R01 AI089970]en_US
dc.identifier.doi10.2217/IMT.12.111en_US
dc.identifier.endpage1127en_US
dc.identifier.issn1750-743X
dc.identifier.issn1750-7448
dc.identifier.issue11en_US
dc.identifier.pmid23194362en_US
dc.identifier.startpage1121en_US
dc.identifier.urihttps://doi.org/10.2217/IMT.12.111
dc.identifier.urihttps://hdl.handle.net/11454/46462
dc.identifier.volume4en_US
dc.identifier.wosWOS:000311266800010en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherFuture Medicine Ltden_US
dc.relation.ispartofImmunotherapyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectatypical mycobacteriaen_US
dc.subjectIL-12/IFN-gamma pathwayen_US
dc.subjectlymphedemaen_US
dc.titleGranulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-gamma receptor-1 deficiencyen_US
dc.typeArticleen_US

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