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Center for Nephrology and Metabolic Disorders
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Tyrosine-protein kinase ITK/TSK

The ITK-Gene encodes a tyrosin kinase that plays an important role in T-cell proliferation and differentiation. Mutations cause autosomal recessive lymphoproliferative syndrome 1 that is also characterized by combined immunodeficiency.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Lymphoproliferative syndrome 1
ITK

References:

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: Aug. 14, 2020
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