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      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

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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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          Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.

          Anne Puel, Sophie Cypowyj, Jacinta Bustamante … (2011)
          Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae caused by Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other infectious or autoimmune manifestations. We report two genetic etiologies of CMCD: autosomal recessive deficiency in the cytokine receptor, interleukin-17 receptor A (IL-17RA), and autosomal dominant deficiency of the cytokine interleukin-17F (IL-17F). IL-17RA deficiency is complete, abolishing cellular responses to IL-17A and IL-17F homo- and heterodimers. By contrast, IL-17F deficiency is partial, with mutant IL-17F-containing homo- and heterodimers displaying impaired, but not abolished, activity. These experiments of nature indicate that human IL-17A and IL-17F are essential for mucocutaneous immunity against C. albicans, but otherwise largely redundant.
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            Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

            Husn H. Frayha, Daniela Di Giuseppe, P Lee … (2010)
            Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.
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              Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.

              Stephanie Boisson-Dupuis, Capucine Picard, Jacinta Bustamante … (2006)
              Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since 1996, disease-causing mutations have been found in five autosomal genes (IFNGR1, IFNGR2, STAT1, IL12B, IL12BR1) and one X-linked gene (NEMO). These genes display a high degree of allelic heterogeneity, defining at least 13 disorders. Although genetically different, these conditions are immunologically related, as all result in impaired IL-12/23-IFN-gamma-mediated immunity. These disorders were initially thought to be rare, but have now been diagnosed in over 220 patients from over 43 countries worldwide. We review here the molecular, cellular, and clinical features of patients with inborn errors of the IL-12/23-IFN-gamma circuit.
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                Author and article information

                Journal
                Journal ID (publisher-id): 1886
                Journal ID (MPID): 122234
                Title: European Journal of Microbiology and Immunology
                Abbreviated Title: EuJMI
                Publisher: Akadémiai Kiadó, co-published with Springer Science+Business Media B.V., Formerly Kluwer Academic Publishers B.V.
                ISSN (Print): 2062-509X
                ISSN (Electronic): 2062-8633
                Publication date (Print): 1 March 2014
                Volume: 4
                Issue: 1
                Pages: 83-87
                Affiliations
                [ 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
                Author notes
                [* ] +90 352 207 66 66/25300, +90 352 437 58 25, himmetakar@ 123456gmail.com
                Article
                Other ID: 8
                DOI: 10.1556/EuJMI.4.2014.1.8
                SO-VID: cc936152-7209-44f8-87fa-5fe86839bc1e
                History
                Date received : 11 January 2014
                Date accepted : 21 January 2014
                Categories
                Subject: Case Study

                ScienceOpen disciplines: Medicine,Immunology,Health & Social care,Microbiology & Virology,Infectious disease & Microbiology
                Keywords: superior mesenteric-portal vein junction thrombosis,thrombophilia,IL-12Rβ1 receptor deficiency,methylenetetrahydrofolatereductase,retroperitoneal fungal abscess
                Data availability:
                ScienceOpen disciplines: Medicine, Immunology, Health & Social care, Microbiology & Virology, Infectious disease & Microbiology
                Keywords: superior mesenteric-portal vein junction thrombosis, thrombophilia, IL-12Rβ1 receptor deficiency, methylenetetrahydrofolatereductase, retroperitoneal fungal abscess

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