Prevention is Better than Cure! Can We prevent Primary Immune Deficiency Diseases?

Prerna Jhawar; Neha Singh; Sagar Bhattad

doi:10.5005/jp-journals-10081-1391

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Prevention is Better than Cure! Can We prevent Primary Immune Deficiency Diseases?

Prerna Jhawar, Neha Singh, Sagar Bhattad

Keywords : Amniocentesis, Antenatal testing, Chorionic villous, Cordocentesis, Inborn Errors of immunity, Sampling

Citation Information : Jhawar P, Singh N, Bhattad S. Prevention is Better than Cure! Can We prevent Primary Immune Deficiency Diseases?. Pediatr Inf Dis 2023; 5 (2):63-64.

DOI: 10.5005/jp-journals-10081-1391

License: CC BY-NC 4.0

Published Online: 30-06-2023

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Abstract

Severe immune deficiencies are often fatal in young childhood unless recognized and treated with a hematopoietic stem cell transplant (HSCT) timely. The majority of the immune deficiencies are monogenic diseases and may affect multiple children in the affected family. While diagnoses and treatment of the affected child are of immediate priority, preventing these diseases in subsequent pregnancies is paramount. In this paper, we discuss the importance and ways of antenatal detection of inborn errors of immunity (IEI) and present a few case scenarios highlighting the need to consider different modalities for the diagnosis of these diseases in the fetus.

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