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 (original) (raw)
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Authors:
H. H. Akar MD
H. H. Akar MD Department of Pediatric Immunology, Medical Faculty, Erciyes University, Kayseri, Turkey
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M. Kose
M. Kose Department of Pediatric Pulmonology, Medical Faculty, Erciyes University, Kayseri, Turkey
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O. Ceylan
O. Ceylan Department of Pediatric Infectious Diseases, Medical Faculty, Erciyes University, Kayseri, Turkey
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T. Patiroglu
T. Patiroglu Department of Pediatric Immunology, Medical Faculty, Erciyes University, Kayseri, Turkey
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J. Bustamante
J. Bustamante 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
Center for Study of Primary Immunodeficiencies, AP-HP, Necker Hospital, Paris, France
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J. L. Casanova
J. L. Casanova 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
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
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B. N. Akyildiz
B. N. Akyildiz Department of Pediatric Intensive Care Unit, Medical Faculty, Erciyes University, Kayseri, Turkey
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S. Doganay
S. Doganay Department of Pediatric Radiology, Medical Faculty, Erciyes University, Kayseri, Turkey
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Pages:
83–87
Online Publication Date:
01 Mar 2014
Publication Date:
01 Mar 2014
Article Category:
Research Article
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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