Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.
Nat Med
; 6(3): 343-5, 2000 Mar.
Article
en En
| MEDLINE
| ID: mdl-10700239
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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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Linfocitos B
/
Linfocitos T
/
Antígenos CD
/
Inmunodeficiencia Combinada Grave
/
Eliminación de Secuencia
/
Antígenos Comunes de Leucocito
Límite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Nat Med
Asunto de la revista:
BIOLOGIA MOLECULAR
/
MEDICINA
Año:
2000
Tipo del documento:
Article
País de afiliación:
Estados Unidos