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The human immune system is a complex defense mechanism that protects the body from harmful pathogens and foreign substances. It comprises two crucial components: innate and adaptive immunity.
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Updated: Jun 25, 2025

A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis
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Inborn Errors of Immunity.

Carolyn H Baloh1, Hey Chong2

  • 1Division of Allergy and Clinical Immunology, Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, 60 Fenwood Road, BTM/Hale Building, 5th Floor, Boston, MA 02115, USA.

The Medical Clinics of North America
|May 30, 2024
PubMed
Summary

Primary care providers should recognize inborn errors of immunity (IEI) signs like recurrent infections and autoimmunity. Early laboratory evaluation and prompt referral are crucial for managing these immune deficiency disorders.

Keywords:
Antibiotic prophylaxisAntibody deficiencyCombined immunodeficiencyHematopoietic stem cell transplantationImmunodeficiencyImmunoglobulin replacementInborn errors of immunityRecurrent infection(s)

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Inborn errors of immunity (IEI) affect 1 in 1000 to 5000 individuals.
  • Characterized by immune deficiency and immune dysregulation.
  • Key features include recurrent/severe infections, hyperinflammation, malignancy, and autoimmunity.

Purpose of the Study:

  • To inform primary care providers (PCPs) about recognizing and managing IEI.
  • To outline initial laboratory evaluations for suspected IEI.
  • To emphasize the importance of timely referral for specialized care.

Main Methods:

  • Literature review of IEI diagnostic criteria and management.
  • Analysis of key clinical presentations and laboratory findings.
  • Guidance on initial diagnostic workup for PCPs.

Main Results:

  • PCPs should maintain a low threshold for referring patients with suggestive symptoms.
  • Initial laboratory tests include CBC with differential, antibody levels, and vaccine titers.
  • Management strategies are diagnosis-specific, ranging from prophylaxis to transplantation.

Conclusions:

  • Early recognition and intervention are vital for improving outcomes in IEI.
  • PCPs play a critical role in the initial identification and workup of IEI.
  • Multidisciplinary care is essential for comprehensive IEI management.