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February 28, 2026Egyptian Journal of Medical Human GeneticsOpen Access

Clinical implications of rare mutations in Northern Iraqi pediatric immunodeficiency cases: retrospective observational study

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Authors

KZKawes O. ZanganaHawler Medical University

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Implication

Retrospective observational study reveals high diagnostic yield of whole-exome sequencing in pediatric immunodeficiencies, indicating better clinical management options.

Key Points

  • Evaluate the diagnostic yield of whole-exome sequencing in identifying rare mutations associated with pediatric immunodeficiencies.
  • Conducted a retrospective observational study on pediatric patients from Northern Iraq.
  • Utilized whole-exome sequencing to identify genetic variants.
  • Analyzed the clinical impact of identified mutations on treatment strategies.
  • Achieved a molecular diagnosis in 66.7% of patients (10 out of 15).
  • Identified 14 clinically relevant genetic variants, including 5 novel.
  • Corrected several initial clinical misdiagnoses, influencing treatment approaches.

Cite This Study

Kawes O. Zangana (2026) studied this question.

synapsesocial.com/papers/69a287f20a974eb0d3c03e1chttps://doi.org/10.1186/s43042-026-00851-7
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