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Hemodynamic Precision in the Neonatal Intensive Care Unit using Targeted Neonatal Echocardiography
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Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy

Nermeen Galal1, Mabroka Ohida2, Safa Meshaal3

  • 1Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.

African Health Sciences
|June 1, 2019
PubMed

Insights

Early diagnosis of primary immunodeficiency (PID) in at-risk infants is crucial. Focused screening identified PID in 52% of suspected neonates, with T cell/combined immunodeficiencies being most common.

Area of Science:

  • Immunology
  • Pediatrics
  • Genetics

Background:

  • Primary immunodeficiency diseases (PID) encompass over 300 disorders affecting immune system development and function.
  • Early identification of PID is critical for timely intervention and improved outcomes in infants.

Purpose of the Study:

  • To diagnose PID in neonates and infants within the first six months of life.
  • To identify characteristic warning signs of PID in this age group.

Main Methods:

  • Fifty neonates with suspected PID warning signs were enrolled.
  • Diagnostic evaluation for primary immunodeficiency diseases.

Main Results:

  • 52% of enrolled neonates were diagnosed with PID.
  • T cell/combined immunodeficiencies were the most prevalent class (88.5%), particularly T-B-SCID (70%).
  • Lower respiratory tract infections, fungal infections, and lymphopenia were significant warning signs (p=0.01), increasing PID likelihood 12.3-fold.

Conclusions:

  • Focused screening in high-risk neonates is effective for diagnosing PID.
  • Early detection through targeted screening improves PID diagnosis rates in infants.
Abstract

Keywords:
Primary immunodeficiency disordersearly infancyneonatal period

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