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

被引：7

作者：

Akar, H. H. ^{[1
]}

Kose, M. ^{[2
]}

Ceylan, O. ^{[3
]}

Patiroglu, T. ^{[1
]}

Bustamante, J. ^{[4
,5
]}

Casanova, J. L. ^{[4
,6
]}

Akyildiz, B. N. ^{[7
]}

Doganay, S. ^{[8
]}

机构：

[1] Erciyes Univ, Fac Med, Dept Pediat Immunol, Kayseri, Turkey

[2] Erciyes Univ, Fac Med, Dept Pediat Pulmonol, Kayseri, Turkey

[3] Erciyes Univ, Fac Med, Dept Pediat Infect Dis, Kayseri, Turkey

[4] Univ Paris 05, Fdn Imagine, Necker Med Sch, Inst Natl Sante Rech Med, Paris, France

[5] Hop Necker Enfants Malad, AP HP, Ctr Study Primary Immunodeficiencies, Paris, France

[6] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10065 USA

[7] Erciyes Univ, Fac Med, Dept Pediat Intens Care Unit, Kayseri, Turkey

[8] Erciyes Univ, Fac Med, Dept Pediat Radiol, Kayseri, Turkey

来源：

EUROPEAN JOURNAL OF MICROBIOLOGY AND IMMUNOLOGY | 2014年 / 4卷 / 01期

关键词：

IL-12R beta 1 receptor deficiency; retroperitoneal fungal abscess; superior mesenteric-portal vein junction thrombosis; methylenetetrahydrofolatereductase; thrombophilia;

D O I：

10.1556/EuJMI.4.2014.1.8

中图分类号：

Q93 [微生物学];

学科分类号：

071005 ; 100705 ;

摘要：

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.

引用

页码：83 / 87

页数：5

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