CD45 deficiency

CD45 deficiency 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.

Alternative names

CD45 Ly5, Human homolog of B220 Severe combined immunodeficiency due to PTPRC Deficiency



  • Combined B and T cell immunodeficiencies
    • T-B+ SCID


Autosomal recessive


#202500 Severe Combined Immunodeficiency 1; SCID1

+151460 Protein-tyrosine phosphatase, receptor-type, c; PTPRC

Cross references

Phenotypically related immunodeficiencies

IDR factfile for X-linked SCID(gamma-chain deficiency)

IDR factfile for JAK3 deficiency


Incidence it is not known yet.