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Exome_sequencing_of_a_Novel_Primary_T_Cell_Immunodeficiency_Kindred

Primary T cell immunodeficiency disorders are genetically heterogenous. Mutations in genes required for specific stages of T cell development within the thymus can lead to reduced numbers of circulating T cells. On the hand, T cells may not egress from the thymus normally leading to profound T cell lymphopenia. As a result, patients with these disorders succumb to a range of severe opportunisitic infections unless allogeneic transplantation is performed. We wish to whole exome sequence a Caucasian family in which the index case shows features of impaired T cell egress from the thymus. Importantly, known genes implicated in T cell immunodeficiency including CORO1A have been seqeuenced and found to normal in this individual.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001005263 Illumina HiSeq 2000 -
Publications Citations
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
J Exp Med 222: 2025 e20220979
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