Diagnostic Testing Procedures and Challenges for Primary Immunodeficiencies

Pediatr Ann. 2022 Dec;51(12):e480-e484. doi: 10.3928/19382359-20221006-07. Epub 2022 Dec 1.

Abstract

Primary immunodeficiencies are rare but are often on the differential diagnosis list when patients present with recurrent or atypical infections. Patients with primary immunodeficiencies can present with a variety of symptoms and can present providers with diagnostic challenges given this variability, and the severe implications of immunodeficiencies can sometimes lead providers to pursue broad workups that may not be necessary. However, there are certain symptom patterns providers can look out for and diagnostic steps that can be taken to triage these presentations. We have used the practice modeled in the "Five Fingers of the Immune Workup" to outline common laboratory tests for clinicians to order when they are concerned for immunodeficiencies while remembering that these diagnoses are often rare, and true concern for this pathology would warrant referral to a specialist. [Pediatr Ann. 2022;51(12):e480-e484.].

MeSH terms

  • Diagnostic Techniques and Procedures*
  • Humans