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., ...Daha Fazla

ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, cilt.35, sa.3, ss.161-165, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.12932/ap0790
  • Dergi Adı: ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.161-165
  • Anahtar Kelimeler: 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
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.