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  • 1 Department of Pediatric Immunology, Medical Faculty, Erciyes University, Kayseri, Turkey
  • 2 Department of Pediatric Pulmonology, Medical Faculty, Erciyes University, Kayseri, Turkey
  • 3 Department of Pediatric Infectious Diseases, Medical Faculty, Erciyes University, Kayseri, Turkey
  • 4 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, U980, University Paris Descartes, Necker Medical School, Foundation Imagine, Paris, France
  • 5 Center for Study of Primary Immunodeficiencies, AP-HP, Necker Hospital, Paris, France
  • 6 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
  • 7 Department of Pediatric Intensive Care Unit, Medical Faculty, Erciyes University, Kayseri, Turkey
  • 8 Department of Pediatric Radiology, Medical Faculty, Erciyes University, Kayseri, Turkey
  • 9 Department of Pediatric Immunology, School of Medicine, Erciyes University, Kayseri, Turkey
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Abstract

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-12Rβ1 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.

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