c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis
نویسندگان
چکیده
Mehmet Halil Celiksoy1, Stephan Borte2, Aydan İkincioğulları3, Meltem Ceyhan Bilgici4, Filiz Karagöz5, Ayhan Gazi Kalaycı6, Alişan Yıldıran3 1Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Allergy and Immunology, Samsun, Turkey 2Leipzig University Faculty of Medicine, Department of Clinical Immunolgy, Leipzig, Germany 3Ankara University Faculty of Medicine, Department of Pediatric Allergy and Immunology, Ankara, Turkey 4Ondokuz Mayıs University University Faculty of Medicine, Department of Pediatric Radiology, Samsun, Turkey 5Ondokuz Mayıs University Faculty of Medicine, Department of Pathology, Samsun, Turkey 6Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Samsun, Turkey
منابع مشابه
X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report
The hyper-IgM syndromes (HIGMs) are a group of primary immune deficiency diseases characterized by a normal or elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE. Here, we report a case of X-linked HIGM with a new CD40L gene mutation presenting with eosinophilia. The patient experienced recurrent pneumonia and acute respiratory distress syndrome (ARDS) from 4 months ...
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X-linked hyper-IgM syndrome (XHIM) results from mutations in the gene encoding for CD40 ligand (CD154). Patients with the syndrome suffer from infections with opportunistic pathogens such as Cryptosporidium and Pneumocystis carinii. In this study, we demonstrate that activated T cells from patients with XHIM produce markedly reduced levels of IFN-gamma, fail to induce antigen-presenting cells t...
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X-linked hyper-IgM Syndrome (XHIGM) is caused by a mutation of CD40 ligand (CD40L), which is normally expressed on activated CD4+ T cells and is responsible for immunoglobulin class switching. A 7-year-old boy with recurrent sino-pulmonary infections since the age of 3 months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and NK cells, but significantly elevated IgM and extrem...
متن کاملHyper-IgM Immunodeficiency with Enamel Defects: a Case Report
Background: Hyper-Immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency in which defective B-cell isotype switching results in a phenotype characterized by elevated or normal serum IgM levels and low levels of other Ig classes, leading to an increased susceptibility to infection, neutropenia, autoimmune disorders, and malignancies. In this disease, a mutation occurs in the C...
متن کاملMutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.
AIMS To analyse the gene encoding the CD40 ligand (CD40L) in 11 Australian patients from 10 unrelated families with the X linked hyper-IgM (XHIM) phenotype. METHODS The CD40L gene was screened for mutations using direct sequencing of exon specific polymerase chain reaction (PCR) products. RESULTS Ten mutations were identified. Seven of these mutations have been described previously, whereas...
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