HIGH INCIDENCE OF SEVERE COMBINED IMMUNODEFICIENCY DISEASE IN SAUDI ARABIA DETECTED THROUGH COMBINED T CELL RECEPTOR EXCISION CIRCLE AND NEXT GENERATION SEQUENCING OF NEWBORN.

Abstract

The rare inherited disorder referred to as severe combined immunodeficiency is characterized by anaemia of the autologous T lymphocytes. An early and accurate detection of mutations is critical for ensuring timely illness care and diagnosis. Additionally, it facilitates the identification of relatives who are carriers and serves to enhance family planning. This investigation centred on the initial laboratory and clinical evaluations of an infant suspected of having SCID. Consanguinity, family history, infections, and pedigree analysis were all intended to be included in the directed history. A novel primary immunodeficiency disorder resulting from the initial mutation in the human IL2RB gene was identified through our research. This finding unveiled novel insights into the biology of NK cells and the signaling of IL-2/15. Inducing the deletion of the WSXWS motif, the IL2RB mutation resulted in decreased IL-2R production and dysregulated downstream signaling. The study alerted to the gravity of SCID, emphasizing its potentially fatal consequences for neonates without treatment and the economic burden it imposes on healthcare infrastructures. SCID children are now able to lead normal lives due to the revolutionary advancements in perinatal screening tests for SCID and associated T-cell lymphopenia. SCID and its mechanism of action are now better understood due to the discovery of the IL2RB mutation. The significance of genetic testing in optimizing healthcare resource utilization and improving patient outcomes cannot be overemphasized, given that effective management requires early detection through comprehensive screening.