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Case Reports
. 2014 Mar;4(1):83-7.
doi: 10.1556/EuJMI.4.2014.1.8. Epub 2014 Mar 14.

Congenital IL-12R1β receptor deficiency and thrombophilia in a girl homozygous for an IL12RB1 mutation and compound heterozygous for MTFHR mutations: A case report and literature review

H H Akar, M Kose, O Ceylan, T Patiroglu, J Bustamante, J L Casanova, B N Akyildiz, S Doganay
Case Reports

Congenital IL-12R1β receptor deficiency and thrombophilia in a girl homozygous for an IL12RB1 mutation and compound heterozygous for MTFHR mutations: A case report and literature review

H H Akar et al. Eur J Microbiol Immunol (Bp). 2014 Mar.

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.

Keywords: IL-12Rβ1 receptor deficiency; methylenetetrahydrofolatereductase; retroperitoneal fungal abscess; superior mesenteric–portal vein junction thrombosis; thrombophilia.

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Conflict of interest statement

Conflict of interest. The authors declare that they have no conflict of interest.

Figures

Fig. 1.
Fig. 1.
Axial CT image shows right retroperitoneal abscess (long arrow), chronic trombosis in the main portal vein (thick arrow) and cavenous transformation (short arrow)
Fig. 2.
Fig. 2.
Axial T1-weighted MR image shows nodular enhancement (tuberculoma) in the right pons (arrow)
Fig. 3.
Fig. 3.
Axial T1-weighted MR image shows thickening and enhancement in the left middle cerebral artery wall (arrow)
Fig. 4.
Fig. 4.
Axial T1-weighted MR image shows pathologic thickening and enhancement of basal cisterns (arrow)
See this image and copyright information in PMC

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