IL12R beta 1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection
ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, cilt.35, sa.3, ss.161-165, 2017 (SCI-Expanded, Scopus)
- 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
- Marmara 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.