Mapping of the X linked form of hyper IgM syndrome (HIGM1)
نویسندگان
چکیده
منابع مشابه
X-linked Hyper IgM (HIGM1) in an African kindred: the first report from South Africa
BACKGROUND The objective of this study was to describe the clinical and molecular features of the first South African family with X-linked hyper-IgM syndrome (HIGM1). METHODS Diagnoses were based on immunoglobulin results and the absence of CD40 ligand (CD40L) expression on activated T-cells. Complete molecular characterisation involved CD40L cDNA sequencing, and genomic DNA analysis by polym...
متن کاملPartial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand.
X-linked hyper IgM syndrome (XHM) is a combined immune deficiency disorder caused by genetic alterations in CD40 ligand. The purpose of this study was to investigate the safety and efficacy of recombinant CD40 ligand (rCD40L) in the treatment of the disease. Three children were administered rCD40L subcutaneously 3 times per week at 0.03 mg/kg for 22 weeks, and after a 12-week drug-free interval...
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 ...
متن کاملClinical 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 کاملA delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child
INTRODUCTION The X-linked hyper-immunoglobulin M syndrome (XHIGM) is an uncommon primary combined immunodeficiency disease caused by CD40L gene mutations. A delayed or missed diagnosis of XHIGM is common and concerning, owing to atypical immunoglobulin profile and phenotype of some patients, low recognition, and limited knowledge of clinicians on XHIGM in some underdeveloped areas. Opportunisti...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1993
ISSN: 1468-6244
DOI: 10.1136/jmg.30.3.202