CD45 deficiency

Term ID

DOID:0060014

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 )