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

KepenekliKadayifci, EDA; Karaaslan, Ayse; Atici, Serkan; Akkoc, GÜLŞEN; BARIŞ, SAFA; YAKUT, NURHAYAT; Demir, SEVLİYA; Koksalan, Orhan; Soysal, Ahmet; Deswarte, Caroline; Bustamante, Jacinta; Casanova, Jean-Laurent; Bakir, Mustafa

doi:10.12932/ap0790

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

Atıf İçin Kopyala

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)

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.