Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

Eur J Pediatr. 2009 Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x. Epub 2008 May 29.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • CD3 Complex / genetics
  • CD4 Antigens / genetics
  • CD8 Antigens / genetics
  • Failure to Thrive
  • Female
  • Genetic Heterogeneity*
  • Humans
  • Infant
  • Lymphopenia / diagnosis
  • Lymphopenia / epidemiology
  • Pedigree
  • Point Mutation / genetics
  • Receptors, Antigen, T-Cell / genetics
  • Severe Combined Immunodeficiency* / diagnosis
  • Severe Combined Immunodeficiency* / genetics
  • Severe Combined Immunodeficiency* / prevention & control
  • Signal Transduction / physiology
  • ZAP-70 Protein-Tyrosine Kinase / deficiency*
  • ZAP-70 Protein-Tyrosine Kinase / genetics*

Substances

  • CD3 Complex
  • CD4 Antigens
  • CD8 Antigens
  • Receptors, Antigen, T-Cell
  • ZAP-70 Protein-Tyrosine Kinase
  • ZAP70 protein, human