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DOID DOID:0060014
Name CD45 deficiency
Definition A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.
http://bioinf.uta.fi/xml/idr/ff/FF6.xml
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is_a severe combined immunodeficiency

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