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Introduction to Innate and Adaptive Immunity01:21

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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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Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
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The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Updated: Aug 1, 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.

Primary Care
|April 27, 2023
PubMed
Summary

Primary care providers should recognize inborn errors of immunity, marked by immune deficiency and dysregulation. Early recognition and basic lab tests like a complete blood count (CBC) can guide timely referral for these rare conditions.

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

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Area of Science:

  • Immunology
  • Primary Care Medicine
  • Genetics

Background:

  • Inborn errors of immunity (IEI) affect 1 in 1000 to 5000 individuals.
  • IEI are 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 IEI.
  • To outline initial laboratory evaluations for suspected IEI.
  • To emphasize the importance of timely referral for IEI diagnosis and management.

Main Methods:

  • Review of key clinical features of IEI.
  • Description of initial laboratory tests for IEI.
  • Discussion of varied management strategies for IEI.

Main Results:

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

Conclusions:

  • Early identification of IEI by PCPs is crucial.
  • Appropriate initial laboratory testing can aid in diagnosis.
  • Timely referral and tailored management are essential for improving outcomes in IEI.