OBO ID: DOID:0060014 |
Term Name: | CD45 deficiency | Search Ontology: | |
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Synonyms: |
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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. https://www.ncbi.nlm.nih.gov/pubmed/29366662 | ||
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Ontology: | Human Disease ( DOID:0060014 ) |
OTHER CD45 deficiency PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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