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

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

C Kung  1 , J T Pingel, M Heikinheimo, T Klemola, K Varkila, L I Yoo, K Vuopala, M Poyhonen, M Uhari, M Rogers, S H Speck, T Chatila, M L Thomas
Affiliations

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

C Kung et al. Nat Med. 2000 Mar.

Abstract

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.

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