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Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
- Source :
-
European Journal of Pediatrics . Jan2009, Vol. 168 Issue 1, p87-93. 7p. 1 Black and White Photograph, 3 Diagrams, 1 Chart, 1 Graph. - Publication Year :
- 2009
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 03406199
- Volume :
- 168
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- European Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 35417561
- Full Text :
- https://doi.org/10.1007/s00431-008-0718-x