Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

T (Tuba) Turul, I Tezcan, Sandra Versteeg, H Artac, Barbara Barendregt, I Reisli, O Sanal, Jacques Dongen, Mirjam van der Burg

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Abstract

One of the severe combined immunodeficiencies (SCIDs), which is caused by a genetic defect in the signal transduction pathways involved in T-cell activation, is the ZAP70 deficiency. Mutations in ZAP70 lead to both abnormal thymic development and defective T-cell receptor (TCR) signaling of peripheral T-cells. In contrast to the lymphopenia in most SCID patients, ZAP70-deficient patients have lymphocytosis, despite the selective absence of CD8(+)T-cells. The clinical presentation is usually before 2 years of age with typical findings of SCID. Here, we present three new ZAP70-deficient patients who vary in their clinical presentation. One of the ZAP70- deficient patients presented as a classical SCID, the second patient presented as a healthy looking wheezy infant, whereas the third patient came to clinical attention for the eczematous skin lesions simulating atopic dermatitis with eosinophilia and elevated immunoglobulin E (IgE), similar to the Omenn syndrome. This study illustrates that awareness of the clinical heterogeneity of ZAP70 deficiency is of utmost importance for making a fast and accurate diagnosis, which will contribute to the improvement of the adequate treatment of this severe immunodeficiency.
Original languageUndefined/Unknown
Pages (from-to)87-93
Number of pages7
JournalEuropean Journal of Pediatrics
Volume168
Issue number1
DOIs
Publication statusPublished - 2009

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