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Lymphoproliferative syndrome 1

Autosomal recessive lymphoproliferative disease due to ITK deficiency is also characterized by combined immunodeficiency.

Systematic

Lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome type 2
Lymphoproliferative syndrome 1
ITK
X-linked lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 2

References:

1.

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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2.

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

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3.

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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