An infant with a severe combined immunodeficiency caused by zeta chain-associated protein 70 (ZAP-70)‎ deficiency

Abstract EN

Zeta Chain-Associated Protein Kinase 70 (ZAP-70) is a protein kinase involved in the T-cell receptor (TCR) signaling; therefore, it plays a significant role in T-cell functioning.

ZAP-70 related severe combined immune deficiency (SCID) is a rare autosomal recessive disorder.

Various clinical presentations of the condition were described in the literature; it was suggested that this clinical heterogeneity may delay the diagnosis.

A ten-month-old infant presented with fever and cough.

He was admitted to the PICU.

Investigations revealed a tracheal aspirate positive for candida.

This case is the first case of ZAP- 70 related SCID to be reported in Bahrain.