Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

Nat Med. 2000 Mar;6(3):343-5. doi: 10.1038/73208.


The hematopoietic-specific transmembrane protein tyrosine phosphatase CD45 functions to regulate Src kinases required for T- and B-cell antigen receptor signal transduction. So far, there have been no reports to our knowledge of a human deficiency in a tyrosine-specific phosphatase. Here, we identified a male patient with a deficiency in CD45 due to a large deletion at one allele and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The patient presented at 2 months of age with severe combined immunodeficiency disease. The population of peripheral blood T lymphocytes was greatly diminished and unresponsive to mitogen stimulation. Despite normal B-lymphocyte numbers, serum immunoglobulin levels decreased with age. Thus, CD45 deficiency in humans results in T- and B-lymphocyte dysfunction.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antigens, CD / blood
  • Antigens, CD / genetics*
  • B-Lymphocytes / immunology*
  • Base Sequence
  • Exons
  • Female
  • Humans
  • Immunoglobulin M / blood
  • Infant
  • Killer Cells, Natural / immunology
  • Leukocyte Common Antigens / blood
  • Leukocyte Common Antigens / genetics*
  • Lymphocyte Count
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Restriction Mapping
  • Sequence Deletion*
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology*
  • Severe Combined Immunodeficiency / therapy
  • T-Lymphocytes / immunology*


  • Antigens, CD
  • Immunoglobulin M
  • Leukocyte Common Antigens