Successful Handling of Covid-19 in Young Patient with SCID due to CARMIL2 (RLTPR) Deficiency: A Case Report & Review of Literature

Khaled Mohammed Al-Qahtani, Al

Abstract

The authors herein report a case of severe combined immunodeficiency (SCID) secondary to a rare genetic mutation of CARMIL2. Presented initially as a case of celiac disease then further investigated to reach the diagnosis of SCID secondary to CARMIL2. Furthermore, the patient has got infected by the recent pandemic COVID-19 and surprisingly passed through the infection asymptomatically. Consequently, discussion regarding of the association and pathophysiology of SCID and COVID-19 and how the underlying disease affected the results of the course of the disease. Interestingly, in our case the rationale of asymptomatic presentation of the disease is not clearly explained in the current literature whether its due to escape of the cytokine storm that the infection causes. Our hypothesis is that due to the severe immunodeficiency in our patient, it evidently helped her to avoid dysregulated immune responses to the virus and escape possible immunopathology status.

Relevant Publications in Journal of Genomics & Gene Study