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Author Spotlight: Investigating the Pathophysiology of Eosinophilic Esophagitis
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Primary immunodeficiencies associated with eosinophilia.

Behdad Navabi1, Julia Elizabeth Mainwaring Upton2

  • 1Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G-1X8 Canada.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|May 26, 2016
PubMed
Summary
This summary is machine-generated.

Primary immunodeficiency disorders (PIDs) can cause eosinophilia, a condition often difficult to diagnose. This review identifies numerous PIDs associated with elevated eosinophils, aiding in earlier diagnosis and understanding of this immune condition.

Keywords:
EosinophiliaEosinophilia differentialsPrimary immunodeficiency disordersSevere eosinophilia

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Area of Science:

  • Immunology
  • Clinical Medicine
  • Genetics

Background:

  • Eosinophilia is a common clinical finding, but its causes can be challenging to diagnose, especially after excluding infection, allergy, and reactive triggers.
  • Primary immunodeficiency disorders (PIDs) are recognized causes of eosinophilia, yet the spectrum of PIDs associated with this finding is not well-documented.
  • An inclusive review of PIDs linked to eosinophilia is needed to facilitate earlier diagnosis and advance understanding of eosinophilia's origins.

Purpose of the Study:

  • To conduct a comprehensive literature review to identify all primary immunodeficiency disorders (PIDs) associated with eosinophilia.
  • To compile an inclusive list of PIDs that present with elevated eosinophil counts.
  • To aid clinicians in considering a broader range of differential diagnoses for unexplained eosinophilia.

Main Methods:

  • A retrospective search of PubMed and Google Scholar was performed.
  • Search terms included "eosinophilia" and individual primary immunodeficiency disorders (PIDs) as classified by the International Union of Immunological Societies.
  • Results were analyzed for reported cases of eosinophilia in the context of PID, with absolute eosinophil counts extracted when available.

Main Results:

  • Beyond commonly cited PIDs, this review identified several others associated with eosinophilia, including MHC class II deficiency, STAT1 deficiency, CD40 deficiency, CVID, and others.
  • Severe eosinophilia was noted in conditions such as Omenn syndrome, Wiskott Aldrich syndrome, ADA deficiency, and STAT3 deficiency, among others.
  • The study documents an extensive list of PIDs associated with elevated eosinophils, expanding the known differentials.

Conclusions:

  • The literature contains an extensive list of primary immunodeficiency disorders (PIDs) associated with eosinophilia.
  • This comprehensive list assists clinicians in broadening their differential diagnoses for patients presenting with eosinophilia.
  • Identifying PIDs as a potential cause for eosinophilia can lead to earlier diagnosis and improved patient management.