CONGENITAL IL-12R1B RECEPTOR DEFICIENCY AND THROMBOPHILIA IN A GIRL HOMOZYGOUS FOR AN IL12RB1 MUTATION AND COMPOUND HETEROZYGOUS FOR MTFHR MUTATIONS: A CASE REPORT AND LITERATURE REVIEW

Akar, H.; KÖSE, MEHMET; Ceylan, Özgür; Patiroglu, TÜRKAN; Bustamante, J.; Casanova, J.; AKYILDIZ, BAŞAKNUR; DOĞANAY, SÜLEYMAN

doi:10.1556/eujmi.4.2014.1.8

CONGENITAL IL-12R1B RECEPTOR DEFICIENCY AND THROMBOPHILIA IN A GIRL HOMOZYGOUS FOR AN IL12RB1 MUTATION AND COMPOUND HETEROZYGOUS FOR MTFHR MUTATIONS: A CASE REPORT AND LITERATURE REVIEW

Atıf İçin Kopyala

Akar H. H., KÖSE M., Ceylan O., Patiroglu T., Bustamante J., Casanova J. L., ...Daha Fazla

EUROPEAN JOURNAL OF MICROBIOLOGY AND IMMUNOLOGY, cilt.4, sa.1, ss.83-87, 2014 (ESCI)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 4 Sayı: 1
Basım Tarihi: 2014
Doi Numarası: 10.1556/eujmi.4.2014.1.8
Dergi Adı: EUROPEAN JOURNAL OF MICROBIOLOGY AND IMMUNOLOGY
Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
Sayfa Sayıları: ss.83-87
Erciyes Üniversitesi Adresli: Evet

Özet

Interleukin-12 (IL-12) plays an important role in the production of interferon gamma from T cells and natural killer cells and is essential for protection against intra-macrophagic pathogens such as Mycobacterium and Salmonella. Here, we describe a 16-year-old girl with homozygous mutation in exon 12 of the IL12RB1 gene, which causes complete IL-12R beta 1 deficiency in association with heterozygous mutation (C677T and A1298C) in the methylenetetrahydrofolate reductase gene. She presented with disseminated Mycobacterium tuberculosis complex infection, retroperitoneal fungal abscess and also thrombosis in the superior mesenteric-portal vein junction. This is the first case report of a primary immunodeficiency associated with a genetically determined venous thrombosis.