OBO ID: DOID:0060014
Term Name: CD45 deficiency Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   ( DOID:0060014 )
Relationships
is a type of:
OTHER CD45 deficiency PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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