title: Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.
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.
authors.affiliation: Department of Pediatric Immunology, Ege University, 35100 Bornova, Izmir, Turkey. neslihanedeer@gmail.com
authors.forename: Neslihan
authors.initials: N
authors.lastname: Edeer Karaca
authors.forename: Stephanie
authors.initials: S
authors.lastname: Boisson-Dupuis
authors.forename: Güzide
authors.initials: G
authors.lastname: Aksu
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Gulsen
authors.initials: G
authors.lastname: Kandiloglu
authors.forename: Nazan
authors.initials: N
authors.lastname: Ozsan
authors.forename: Mine
authors.initials: M
authors.lastname: Hekimgil
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Necil
authors.initials: N
authors.lastname: Kutukculer
mesh_terms: D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006099:Granuloma / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D007223:Infant; D035002:Lower Extremity / Q000473:pathology; D008209:Lymphedema / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D008297:Male; D009161:Mycobacterium / Q000276:immunology*; D015270:Mycobacterium avium-intracellulare Infection / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D010375:Pedigree; D017471:Receptors, Interferon / Q000235:genetics*; D012611:Scrotum / Q000473:pathology; D017384:Sequence Deletion / Q000235:genetics; D014382:Tuberculosis, Cutaneous / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor