X-linked Hyper IgM (HIGM1) in an African kindred: the first report from South Africa
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 کاملX-linked deafness in a South African kindred.
The X-linked deafness of Nance is present in a South African kindred. Recognition of the familial pattern of the disorder, together with the characteristic clinical and audiometric features, permits diagnostic precision, thereby facilitating accurate genetic counselling and rational management. Linkage studies indicated that the loci for the Xg blood group and the deafness gene are unlikely to ...
متن کاملThe Effect of South African Geopolitical Position in the Development of Cinema in South Africa
This paper will discuss about the role of the geopolitical location of South Africa in the development of movie and the cinema industry in this country. Despite of bringing ci-nema to South Africa by white Europeans, but the development of this phenomenon is mostly due to the geopolitical position of this country. It is interesting to know that ci-nema reached Africa in much the same time as it...
متن کاملX-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 ...
متن کاملX-linked hypophosphataemia in South Africa.
OBJECTIVES To investigate the pattern of clinical presentation in a series of South African subjects with X-linked hypophosphataemia (XLH) with particular reference to ethnic differences in presentation and inheritance, and to determine the perceptions and psychosocial problems associated with the disease. DESIGN AND SETTING The clinical details of 50 subjects were collected from their record...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Pediatrics
سال: 2003
ISSN: 1471-2431
DOI: 10.1186/1471-2431-3-12