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Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review

Fang Cao1, Yingyu Shi1, Fang Deng1

  • 1Anhui Provincial Children's Hospital, China.

Central-European Journal of Immunology
|December 25, 2024
PubMed

Insights

A rare case of primary combined immunodeficiency (CID) was diagnosed in a Chinese boy presenting with bronchiectasis and recurrent infections. This finding expands the understanding of CID genetics and aids early diagnosis.

Area of Science:

  • Pediatrics
  • Immunology
  • Genetics

Background:

  • Recurrent respiratory infections and bronchiectasis in children can indicate underlying primary immunodeficiency.
  • Early identification of immune system abnormalities is crucial for timely intervention and improved outcomes.

Purpose of the Study:

  • To report a rare clinical case of primary combined immunodeficiency (CID) presenting with bronchiectasis in a 10-year-old boy.
  • To highlight the diagnostic challenges and genetic insights associated with this rare presentation of CID.
  • To contribute to the understanding of the genetic landscape of CID, particularly in the Chinese population.

Main Methods:

  • Detailed clinical case review including medical history, physical examination, and diagnostic workup.
  • Utilized imaging studies (pulmonary and sinus CT scans) to assess bronchiectasis and associated infections.
  • Performed immunological assessments (immunoglobulin levels, T-cell distribution) and whole exome sequencing for genetic analysis.

Main Results:

  • The patient presented with prolonged cough, fever, recurrent bronchitis, otitis media, skin allergies, and viral warts.
  • Imaging confirmed significant bronchiectasis with concurrent infections and sinusitis.
  • Immunological evaluation revealed abnormal immunoglobulin levels and T-cell distribution, suggestive of immune deficiency.
  • Whole exome sequencing identified a compound heterozygous missense mutation (c.420A>T, p.R140S) in the IL2RG gene, associated with primary combined immunodeficiency (CID).

Conclusions:

  • This case represents a rare instance of primary combined immunodeficiency (CID) linked to IL2RG gene mutation presenting with bronchiectasis in China.
  • The findings underscore the importance of considering immune deficiencies in children with recurrent infections and bronchiectasis.
  • This report expands the known genetic variations for CID and aids in clinical diagnosis and management strategies.

Keywords:
IL2RG gene mutationbronchiectasisimmunodeficiencypediatric respiratory diseasesprimary severe combined immunodeficiency

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