title: IL12Rβ1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection.
abstract: Infections due to non-tuberculous mycobacteria species are problematic for immunodeficient individuals. Mendelian susceptibility to mycobacterial diseases (MSMD) defines a group of genetic defects affecting cellular interactions and the interferon (IFN)-γ pathway. Patients with MSMD may present with a disseminated infection resulting from the Bacillus Calmette-Guerin vaccine, Mycobacterium tuberculosis complex, environmental nontuberculous mycobacteria or Salmonella species. Atypical mycobacterial infections and deficient granuloma or giant cell formation are important indicators for MSMD, especially in patients with a family history of parental consanguineous marriage. Herein we report the case of a boy with an IL-12Rβ1 defect who presented with massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare infection. The patient was born to consanguineous parents, both heterozygous for the IL-12Rβ1 defect mutation. Debulking surgery was planned in order to decrease the abdominal mass, but could not be performed due to a high risk of fatal outcomes. He has been receiving linezolid, levofloxacin, azithromycin, rifabutin and IFN-γ therapy for the past 14 months. At follow-up, the patient showed significant clinical improvement and weight gain.
authors.affiliation: Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey.
authors.forename: Eda Kepenekli
authors.initials: EK
authors.lastname: Kadayifci
authors.affiliation: Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey.
authors.forename: Ayşe
authors.initials: A
authors.lastname: Karaaslan
authors.affiliation: Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey.
authors.forename: Serkan
authors.initials: S
authors.lastname: Atici
authors.affiliation: Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey.
authors.forename: Gülşen
authors.initials: G
authors.lastname: Akkoç
authors.affiliation: Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Allergy and Immunology, Istanbul, Turkey.
authors.forename: Safa
authors.initials: S
authors.lastname: Bariş
authors.affiliation: Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey.
authors.forename: Nurhayat
authors.initials: N
authors.lastname: Yakut
authors.affiliation: Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey.
authors.forename: Sevliya Öcal
authors.initials: SÖ
authors.lastname: Demir
authors.affiliation: Istanbul University, Istanbul School of Medicine, Experimental Medicine Research Institute-Molecular Epidemiology of Tuberculosis Laboratory, Istanbul, Turkey.
authors.forename: Orhan Kaya
authors.initials: OK
authors.lastname: KÖksalan
authors.affiliation: Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Soysal
authors.affiliation: Paris Descartes University, Imagine Institute, Paris, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Deswarte
authors.affiliation: Paris Descartes University, Imagine Institute, Paris, France.
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.affiliation: Paris Descartes University, Imagine Institute, Paris, France.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.affiliation: Marmara University School of Medicine, Department of Pediatrics, Division of Pediatric Infectious Diseases, Istanbul, Turkey Medicine, Department of Pediatrics, Division of Pediatric Allergy and Immunology.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Bakir
mesh_terms: D000483:Alleles; D015415:Biomarkers; D001706:Biopsy; D002675:Child, Preschool; D004198:Disease Susceptibility; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D000072281:Lymphadenopathy / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D009154:Mutation; D015270:Mycobacterium avium-intracellulare Infection / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000382:microbiology*; D000072078:Positron Emission Tomography Computed Tomography; D053707:Receptors, Interleukin-12 / Q000172:deficiency*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12