There is sufficient evidence published associating the ITK gene with lymphoproliferative syndrome 1 since the gene-disease relationship was firstly proposed by Huck et al (2009). Multiple studies of case level have been performed with patients with lymphoproliferative syndrome 1 that have biallelic loss of function variants in the ITK gene. ITK-/- mouse model has been established to recap partial patients’ phenotypes including decreased number of natural killer T cells. Lymph nodes from patients were found with significantly decreased ITK immunoreactivity compared with normal controls. All of these evidence suggest a definitive relationship between the ITK gene and lymphoproliferative syndrome 1.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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