Acta Scientific Medical Sciences (ASMS)(ISSN: 2582-0931)

Case Report Volume 4 Issue 9

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

Khaled Mohammed Al-Qahtani1*, Ali Alhamdan1, Wael F Alblowi2, Mohammed Manei Al-Amri3 and Mohammed Hasan Almalki4

1Department of Internal Medicine, Resident of internal Medicine at King Saud Medical City, Saudi Arabia
2Department of Internal Medicine, Medical Consultant, Allergist and Clinical Immunologist at King Saud Medical City, Saudi Arabia
3Department of Internal Medicine, Consultant of internal Medicine and at King Saud Medical City, Saudi Arabia
4Department of Internal Medicine, Medical Consultant and toxicologist at King Saud Medical City, Saudi Arabia

*Corresponding Author: Khaled Mohammed Al-Qahtani, Department of Internal Medicine, Resident of internal Medicine at King Saud Medical City, Saudi Arabia.

Received: August 15, 2020; Published: August 31, 2020

×

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.

Keywords: Primary Immunodeficiency (PID); CARMIL2; COVID-19

×

References

  1. Justiz Vaillant AA and Mohseni M. “Severe Combined Immunodeficiency”. In: StatPearls. Treasure Island (FL): StatPearls Publishing (2020).
  2. T Schober., et al. “A human immunodeficiency syndrome caused by mutations in CARMIL2”. Nature Communication 8 (2017).
  3. Gao Y., et al. “Impacts of immunosuppression and immunodeficiency on COVID-19: A systematic review and meta-analysis”. Journal of Infection2 (2020): e93-e95.
  4. Brough HA., et al. “Managing childhood allergies and immunodeficiencies during respiratory virus epidemics - The 2020 COVID-19 pandemic: A statement from the EAACI section on pediatrics”. Pediatric Allergy and Immunology (2020).
  5. Liu J., et al. “Overlapping and discrete aspects of the pathology and pathogenesis of the emerging human pathogenic coronaviruses SARS‐CoV, MERS‐CoV, and 2019‐nCoV”. Journal of Medical Virology 92 (2020): 491-494.
  6. Pascarella G., et al. “COVID-19 diagnosis and management: a comprehensive review”. Journal of Internal Medicine 2 (2020): 192-206.
  7. Geha RS., et al. “International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee”. Journal of Asthma and Clinical Immunology4 (2007): 776-794.
  8. T Schober., et al. “A human immunodeficiency syndrome caused by mutations in CARMIL2”. Nature Communication (2017).
  9. Mehta P., et al. “COVID-19: consider cytokine storm syndromes and immunosuppression”. Lancet10229 (2020): 1033-1034.
  10. Channappanavar R., et al. “Dysregulated Type I Interferon and Inflammatory Monocyte-Macrophage Responses Cause Lethal Pneumonia in SARS-CoV-Infected Mice”. Cell Host and Microbes 19 (2016): 181-193.
  11. McCusker C and Warrington R. “Primary immunodeficiency”. Allergy, Asthma and Clinical Immunology 1 (2011): S11.
×

Citation

Citation: Khaled Mohammed Al-Qahtani., et al. “Successful Handling of Covid-19 in a Young Patient with SCID due to CARMIL2 (RLTPR) Deficiency: Case Report and Review of Literature". Acta Scientific Medical Sciences 4.9 (2020): 133-136.




Metrics

Acceptance rate30%
Acceptance to publication20-30 days
Impact Factor1.403

Indexed In





Contact US