IL12R beta 1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection

KepenekliKadayifci E., Karaaslan A., Atici S., Akkoc G., BARIŞ S., YAKUT N., ...More

ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, vol.35, no.3, pp.161-165, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 3
  • Publication Date: 2017
  • Doi Number: 10.12932/ap0790
  • Journal Name: ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.161-165
  • Keywords: Atypical mycobacteria, Child, Immune deficiency, Mycobacterium intracellulare, IL-12R beta 1 defect, MENDELIAN SUSCEPTIBILITY, IL-12R-BETA-1 DEFICIENCY, CLINICAL-FEATURES, DISEASE, AVIUM, TUBERCULOSIS, CHILD
  • Marmara University Affiliated: Yes

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)-gamma 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.