Tyrosine-Proteinkinase ITK/TSK
Das ITK-Gen kodiert eine Tyrosin-Kinase, die in T-Zellen eine wichtige Rolle für die Proliferation und Differenzierung spielt. Mutationen sind verantwortlich für das autosomal rezessive lymphoproliferative Syndrom 1, bei welchem auch ein kombinierter Immundefekt besteht.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Hwang ES et al. (2005) T helper cell fate specified by kinase-mediated interaction of T-bet with GATA-3.
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2. |
Janis EM et al. (1994) Mapping of the gene for the tyrosine kinase Itk to a region of conserved synteny between mouse chromosome 11 and human chromosome 5q.
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3. |
Cheng G et al. (1994) Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction.
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4. |
Gibson S et al. (1993) Identification, cloning, and characterization of a novel human T-cell-specific tyrosine kinase located at the hematopoietin complex on chromosome 5q.
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5. |
Schaeffer EM et al. (1999) Requirement for Tec kinases Rlk and Itk in T cell receptor signaling and immunity.
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6. |
Woods ML et al. (2001) A novel function for the Tec family tyrosine kinase Itk in activation of beta 1 integrins by the T-cell receptor.
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7. |
Atherly LO et al. (2006) The Tec family tyrosine kinases Itk and Rlk regulate the development of conventional CD8+ T cells.
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8. |
Broussard C et al. (2006) Altered development of CD8+ T cell lineages in mice deficient for the Tec kinases Itk and Rlk.
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9. |
Dubois S et al. (2006) ITK and IL-15 support two distinct subsets of CD8+ T cells.
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10. |
Huang YH et al. (2007) Positive regulation of Itk PH domain function by soluble IP4.
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11. |
Huck K et al. (2009) Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
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12. |
Stepensky P et al. (2011) IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.
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13. |
Linka RM et al. (2012) Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.
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Update: 14. August 2020