Version: 8.0.0
Date: Tue Jan 28 2025
CD45 deficiency
DOID:0060014
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
Not Available
Parent Terms
Child Terms
None
Sources of Associations

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    Associated Alleles

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      Associated Models

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