Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia
Abstract
Schimke immuno-osseous dysplasia (SIOD) is caused by SMARCAL1 deficiency and characterized by defective T-cell immunity. The immunodeficiency and the role of thymic function in SIOD patients are not clearly understood. We performed thymic evaluations by assessing T-cell receptor (TCR) diversity, rearrangement, and excision circles in family members with different disease severity carrying the same bi-allelic mutation and in a heterozygous...
Paper Details
Title
Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia
Published Date
Dec 1, 2009
Journal
Volume
133
Issue
3
Pages
375 - 381
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