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- Title
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
- Authors
Turul, Tuba; Tezcan, Ilhan; Artac, Hasibe; De Bruin-Versteeg, Sandra; Barendregt, Barbara H.; Reisli, Ismail; Sanal, Ozden; Van Dongen, Jacques J. M.; Van der Burg, Mirjam
- 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.
- Subjects
IMMUNOLOGICAL deficiency syndromes; CELLULAR signal transduction; T cells; GENETIC mutation; EOSINOPHILIA; ATOPIC dermatitis
- Publication
European Journal of Pediatrics, 2009, Vol 168, Issue 1, p87
- ISSN
0340-6199
- Publication type
Article
- DOI
10.1007/s00431-008-0718-x