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Eosinophilia Associated With Immune Deficiency.

Peter Olbrich1, Pilar Ortiz Aljaro2, Alexandra F Freeman3

  • 1Sección Infectología, Reumatología e Inmunología Pediátrica, UGC de Pediatría, Hospital Universitario Virgen del Rocío, Seville, Spain; Laboratorio de Alteraciones Congénitas de la Inmunidad, Laboratorio 205, Instituto de Biomedicina de Sevilla, Seville, Spain; Departamento de Farmacología, Pediatría y Radiología, Facultad de Medicina, Universidad de Sevilla, Spain.

The Journal of Allergy and Clinical Immunology. in Practice
|March 1, 2022
PubMed
Summary

Inborn errors of immunity (IEI) can cause eosinophilia, a condition with a broad differential diagnosis. This review aids physicians in diagnosing IEI in patients with eosinophilia and potential immune dysregulation.

Keywords:
EosinophiliaEosinophilsHyper-IgeIL-5IgEImmunodeficiencyInborn errors of immunity

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Eosinophilia, characterized by elevated eosinophil counts, has a wide differential diagnosis including infections, malignancies, atopy, and inborn errors of immunity (IEI).
  • While some IEIs are known to cause eosinophilia and elevated serum IgE, the association for others is less defined.
  • The molecular heterogeneity of IEIs underscores the complex regulation of eosinophils within the immune system.

Purpose of the Study:

  • To review clinical manifestations and therapies of immune deficiency and dysregulation disorders associated with eosinophilia.
  • To provide guidance for diagnosing IEI in patients presenting with eosinophilia, with or without elevated IgE.
  • To highlight the heterogeneity of IEIs and their impact on eosinophil regulation.

Main Methods:

  • Literature review of immune deficiency and dysregulation disorders associated with eosinophilia.
  • Discussion of clinical presentations, molecular defects, and therapeutic strategies.
  • Development of a diagnostic algorithm for evaluating patients with eosinophilia and suspected IEI.

Main Results:

  • The review details various IEIs linked to peripheral blood or tissue eosinophilia, with or without elevated IgE levels.
  • Illustrative case vignettes for common IEI entities are presented.
  • A systematic diagnostic algorithm is proposed to aid clinicians.

Conclusions:

  • Eosinophilia can be a significant indicator of underlying inborn errors of immunity.
  • Systematic evaluation and a proposed diagnostic algorithm can improve the identification of IEI in patients with eosinophilia.
  • Understanding the molecular basis of IEI is crucial for managing eosinophilia and immune dysregulation.