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.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001005263	Primary T cell immunodeficiency disorders have a heterogeneous genetic basis. This study will focus on one case characterised by severe T cell lymphopenia in the index case. We aim to sequence the complete exomes of this individual, her three unaffected siblings and parents in an effort to identify the causative genetic mutation responsible for this disorder. We will perform exome capture using Agilent SureSelect system, followed by sequencing on the HiSeq platform. Our study has the potential to uncover genes important for T cell development and novel therapeutic strategies to treat T cell immunodeficiencies. . This dataset contains all the data available for this study on 2019-08-19.	Illumina HiSeq 2000	-

Publications	Citations
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency. Blanco E, Camps C, Bahal S, Kerai MD, Ferla MP, Rochussen AM, Handel AE, Golwala ZM, Spiridou Goncalves H, Kricke S, Klein F, Zhang F, Zinghirino F, Evans G, Keane TM, Lizot S, Kusters MAA, Iro MA, Patel SV, Morris EC, Burns SO, Radcliffe R, Vasudevan P, Price A, Gillham O, Valdebenito GE, Stewart GS, Worth A, Adams SP, Duchen M, André I, Adams DJ, Santili G, Gilmour KC, Holländer GA, Davies EG, Taylor JC, Griffiths GM, Thrasher AJ, Dhalla F, Kreins AY. J Exp Med 222: 2025 e20220979	1

Publications

Citations

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
Blanco E, Camps C, Bahal S, Kerai MD, Ferla MP, Rochussen AM, Handel AE, Golwala ZM, Spiridou Goncalves H, Kricke S, Klein F, Zhang F, Zinghirino F, Evans G, Keane TM, Lizot S, Kusters MAA, Iro MA, Patel SV, Morris EC, Burns SO, Radcliffe R, Vasudevan P, Price A, Gillham O, Valdebenito GE, Stewart GS, Worth A, Adams SP, Duchen M, André I, Adams DJ, Santili G, Gilmour KC, Holländer GA, Davies EG, Taylor JC, Griffiths GM, Thrasher AJ, Dhalla F, Kreins AY. J Exp Med 222: 2025 e20220979