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| Term | CD45 deficiency | ID (Ontology) | DOID:0060014 (Human Disease) |
| 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. | ||
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combined immunodeficiency |__severe combined immunodeficiency |__CD45 deficiency |
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| Is a | severe combined immunodeficiency | ||
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