CLINICAL AND MOLECULAR FEATURES OF X-LINKED IMMUNODEFICIENCY WITH HYPER-IgM: A EUROPEAN SURVAY 5
نویسندگان
چکیده
منابع مشابه
Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome
X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patien...
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 کاملImmunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.
BACKGROUND X linked hyper-IgM (XHIM) is a primary immunodeficiency caused by mutations in the tumour necrosis factor superfamily 5 gene, TNFSF5, also known as the CD40 ligand (CD40L) gene. Patients often present with recurrent infections, and confirmation of a diagnosis of XHIM enables appropriate therapeutic interventions, including replacement immunoglobulin, antibiotics, and bone marrow tran...
متن کاملCase report Bone marrow transplantation as treatment for X-linked immunodeficiency with hyper-IgM
We report a 10-year-old boy with a severe form of immunodeficiency with hyper-IgM who underwent successful bone marrow transplantation with his HLA-matched sister as donor. Busulfan (20 mg/kg) and cyclophosphamide (200 mg/kg) were used as conditioning. The post-transplant course was uneventful. He is alive 25 months later with full hematological and immunological reconstitution. BORDIGONI, P, e...
متن کاملClinical and genetic analysis of patients with X-linked hyper-IgM syndrome.
To the Editor : Hyper-immunoglobulin M (IgM) syndromes are characterized by the presence of recurrent infections, low levels of IgG and IgA, and normal to high levels of IgM. The X-linked hyper-IgM (X-HIGM) syndrome is the most frequently observed subtype of hyperIgM syndromes (65–70%) and results from defects in the CD40L gene, which encodes for the CD40 ligand (CD154) (1–3). In this study, a ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1997
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199705000-00024