نتایج جستجو برای: linked lymphoproliferative syndrome

تعداد نتایج: 843487  

Journal: :Proceedings of the National Academy of Sciences 2007

Journal: :Cancer research 1981
D T Purtilo G Klein

infectious mononucleosis (5) and is one possible etiological agent of Burkitt lymphoma and nasopharyngeal carcinoma (6, 7). When the virus infects a young child, silent seroconversion is the rule. In contrast, primary infection of young adults results in infectious mononucleosis in about one-half of the cases (6). The observations of fatal infectious mononucleosis, agammaglobulinemia, and aplas...

Journal: :The Journal of clinical investigation 2009
Kirsten Huck Oliver Feyen Tim Niehues Franz Rüschendorf Norbert Hübner Hans-Jürgen Laws Tanja Telieps Stefan Knapp Hans-Heinrich Wacker Alfons Meindl Hassan Jumaa Arndt Borkhardt

The fatal immune dysregulation that sometimes follows EBV infection in boys has been linked to mutations in two X chromosome-encoded genes, SLAM-associated protein (SAP) and X-linked inhibitor of apoptosis (XIAP). In this study we describe 2 girls from a consanguineous Turkish family who died after developing severe immune dysregulation and therapy-resistant EBV-positive B cell proliferation fo...

2012
Gerardo Alvarez-Uria Praveen K Naik Manoranjan Midde Shanmugamari Kannan Raghuprakash Reddy

With the implementation of 2010 World Health Organization guidelines, the number of infants from developing countries who will initiate antiretroviral therapy (ART) will increase considerably. In this study we describe the HIV antibody tests of 14 HIV infected children who initiated ART at age less than one year in a rural setting of India. The HIV rapid test was negative in seven and indetermi...

Journal: :Blood 2007
Nagendra Singh Phillip R Chandler Yoichi Seki Babak Baban Mayuko Takezaki David J Kahler David H Munn Christian P Larsen Andrew L Mellor Makio Iwashima

Scurfy mice develop CD4 T-cell-mediated lymphoproliferative disease leading to death within 4 weeks of age. The scurfy mutation causes loss of function of the foxp3 gene (foxp3(sf)), which is essential for development and maintenance of naturally occurring regulatory CD4 T cells (nTregs). In humans, mutations of the foxp3 gene cause immune dysregulation, polyendocrinopathy, enteropathy, and X-l...

2005
Susanne Hermesch

Genetic evaluation systems like PIGBLUP use information on the performance of pigs along with environmental and management factors to derive Estimated Breeding Values (EBVs) for each animal. In contrast to the observed performance of an animal, EBVs are not expressed in absolute values but are expressed as a difference from a base value. This base often consists of the oldest animals included i...

Journal: :South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 1974
P Thorpe S Sellars P Beighton

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 ...

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