Abstract
X-linked lymphoproliferative disease (XLP1) is a rare primary immunodeficiency that usually presents in early childhood. Patients with XLP1 have been reported to have absent NKT cells, and it has been suggested that this can be diagnostic for the disorder. Whilst NKT frequency in adults is variable, little is known about their frequency in children. Therefore, we established a paediatric reference range for these cells. In contrast to previous reports, in our cohort of XLP1 patients, NKT cell numbers were found to be variable, and we would advise against using the finding of NKT cells to exclude a diagnosis of XLP1.
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