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

C Kung, JT Pingel, M Heikinheimo, T Klemola… - Nature medicine, 2000 - nature.com
C Kung, JT Pingel, M Heikinheimo, T Klemola, K Varkila, LI Yoo, K Vuopala, M Poyhonen…
Nature medicine, 2000nature.com
The hematopoietic-specific transmembrane protein tyrosine phosphatase CD45 functions to
regulate Src kinases required for T-and B-cell antigen receptor signal transduction 1, 2. 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 …
Abstract
The hematopoietic-specific transmembrane protein tyrosine phosphatase CD45 functions to regulate Src kinases required for T-and B-cell antigen receptor signal transduction 1, 2. 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.
nature.com