| Metadata | |
|---|---|
| ID | DOID:0060014 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/29366662 |
| Parent Relationships |