Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lymphoproliferatives Syndrom 1
ITK

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.

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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3.

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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4.

Stepensky P et al. (2011) IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach.

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5.

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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6.

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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7.

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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8.

Schaeffer EM et al. (1999) Requirement for Tec kinases Rlk and Itk in T cell receptor signaling and immunity.

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9.

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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10.

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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11.

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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12.

Dubois S et al. (2006) ITK and IL-15 support two distinct subsets of CD8+ T cells.

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13.

Huang YH et al. (2007) Positive regulation of Itk PH domain function by soluble IP4.

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Update: 8. Juni 2020