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Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID.

Martijn V Verhagen1, Valentina Trevisan2, John Adu3

  • 1Department of Paediatric Radiology, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK. m.verhagen@umcg.nl.

Journal of Clinical Immunology
|December 21, 2019
PubMed
Summary

Radiological features like scapular squaring and costochondral cupping can help differentiate adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID) in infants. These bone abnormalities are reliable indicators in children under seven months old.

Keywords:
ADA-SCIDERTHSCTPediatricSCIDdiagnosisradiograph

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Area of Science:

  • Pediatric Radiology
  • Immunology
  • Genetics

Background:

  • Early diagnosis of adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID) is crucial for timely treatment and improved outcomes.
  • Radiological markers may aid in differentiating ADA-SCID from other severe combined immunodeficiency (SCID) forms.

Purpose of the Study:

  • To evaluate if specific radiological features can reliably differentiate ADA-SCID from other SCID subtypes.
  • To assess the diagnostic performance of scapular and costochondral abnormalities in identifying ADA-SCID.

Main Methods:

  • Retrospective analysis of chest radiographs from children with ADA-SCID and non-ADA-SCID.
  • Assessment of specific radiological features (scapular angle squaring, spurring, costochondral cupping) by three pediatric radiologists.
  • ROC curve analysis to determine optimal thresholds and test performance.

Main Results:

  • Radiological features including scapular squaring, scapular spur, and costochondral cupping showed significant positive likelihood ratios.
  • The diagnostic accuracy was highest for children under approximately 7 months of age (AUC 0.862).
  • High sensitivity (91.7%) and specificity (80.7%) were achieved at the optimal threshold, with good interreader agreement (k=0.709).

Conclusions:

  • Scapular spurring, squaring, and costochondral cupping are reliable radiological indicators for differentiating ADA-SCID in infants.
  • These features are particularly useful in children younger than 7 months.
  • The assessment is reliable across different levels of radiologist experience.