Phenotypic Features of Selective T Cell Deficiency Characterized by Absence of CD8+T Lymphocytes and Undetectable mRNA for ZAP-70 Kinase

ZAP-70 is required for calcium mobilization but is dispensable for mitogen-activated protein kinase (MAPK) superfamily activation induced via CD2 in human T cells

“…It is noteworthy, however, that ZAP-70-deficient T cells proliferated in response to stimulation with PMA plus ionomycin, which stimulate T cells by activation of signaling pathways downstream of ZAP-70, to a level comparable to normal T cells. This is consistent with the recent report on another patient with CD8 deficiency [37]. Furthermore, no production of IL-2, IL-4, or IFN-+ was detected in the culture supernatants of the patient's PBMC upon CD2 stimulation (Table 1).…”

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

“…SCIDs resulting from ZAP70 deficiency was first described in 1994, and is characterized by lymphocytosis, the selective absence of CD8 + T-cells in peripheral blood, and profoundly defective signal transduction through the TCR-CD3 complex on the remaining CD4 + T-cells [7]. To date, 15 cases of ZAP70 deficiency have been reported [1,7,14,15,19]. The patients usually present before 2 years of age with a history of recurrent bacterial, viral and opportunistic infections, diarrhea, and failure to thrive, thereby, meeting the criteria for the diagnosis of SCID [7].…”

Diagnostik von Immundefekten. Diagnosis of Immunodeficiencies

“…Die CD8-T-ZelUDef izienz kann ursprünglich auf einen Defekt im ZAP-70 zurückgeführt werden und ist durchflußzytometrisch nachweisbar [84,85].…”