Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review
This study presents a detailed clinical case of a 10-year-old boy with a history of prolonged cough, fever, and delayed diagnosis of bronchiectasis. Review of the case revealed that the child has had recurrent bronchitis, otitis media, skin allergies, and viral warts since early childhood, indicatin...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2024-09-01
|
| Series: | Central European Journal of Immunology |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Novel-IL2RG-gene-mutation-causing-primary-combined-immunodeficiency-disease-A-case-report-and-literature-review,10,54632,1,1.html |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832584770647752704 |
|---|---|
| author | Fang Cao Yingyu Shi Fang Deng Yu Yan |
| author_facet | Fang Cao Yingyu Shi Fang Deng Yu Yan |
| author_sort | Fang Cao |
| collection | DOAJ |
| description | This study presents a detailed clinical case of a 10-year-old boy with a history of prolonged cough, fever, and delayed diagnosis of bronchiectasis. Review of the case revealed that the child has had recurrent bronchitis, otitis media, skin allergies, and viral warts since early childhood, indicating persistent immune system abnormalities. Imaging studies, including pulmonary and sinus CT scans, show significant bronchiectasis accompanied by infections and sinusitis. Immunological assessment revealed abnormalities in immunoglobulin levels and T-cell distribution, suggesting a potential immune deficiency. Whole exome sequencing did not identify any genetic variants highly associated with and definitively pathogenic for bronchiectasis but detected a compound heterozygous missense mutation c.420A>T (p.R140S) in the IL2RG gene, linked to primary combined immunodeficiency (CID), a clinical phenotype rarely reported in China due to this gene mutation. This case report not only enhances our understanding of CID but also provides a new addition to the genetic landscape of CID both domestically and internationally, aiding in earlier diagnosis and treatment of such diseases in clinical practice. During the 18-month follow-up period, the child was unable to participate in physical activities, and experienced recurrent rhinitis, sinusitis, and warts. The child’s current weight and height are 30 kg and 140 cm, respectively. |
| format | Article |
| id | doaj-art-1587696df2294a31b9771565aa49e521 |
| institution | Kabale University |
| issn | 1426-3912 1644-4124 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Central European Journal of Immunology |
| spelling | doaj-art-1587696df2294a31b9771565aa49e5212025-01-27T11:13:18ZengTermedia Publishing HouseCentral European Journal of Immunology1426-39121644-41242024-09-0149330030710.5114/ceji.2024.14234054632Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature reviewFang CaoYingyu ShiFang DengYu YanThis study presents a detailed clinical case of a 10-year-old boy with a history of prolonged cough, fever, and delayed diagnosis of bronchiectasis. Review of the case revealed that the child has had recurrent bronchitis, otitis media, skin allergies, and viral warts since early childhood, indicating persistent immune system abnormalities. Imaging studies, including pulmonary and sinus CT scans, show significant bronchiectasis accompanied by infections and sinusitis. Immunological assessment revealed abnormalities in immunoglobulin levels and T-cell distribution, suggesting a potential immune deficiency. Whole exome sequencing did not identify any genetic variants highly associated with and definitively pathogenic for bronchiectasis but detected a compound heterozygous missense mutation c.420A>T (p.R140S) in the IL2RG gene, linked to primary combined immunodeficiency (CID), a clinical phenotype rarely reported in China due to this gene mutation. This case report not only enhances our understanding of CID but also provides a new addition to the genetic landscape of CID both domestically and internationally, aiding in earlier diagnosis and treatment of such diseases in clinical practice. During the 18-month follow-up period, the child was unable to participate in physical activities, and experienced recurrent rhinitis, sinusitis, and warts. The child’s current weight and height are 30 kg and 140 cm, respectively.https://www.termedia.pl/Novel-IL2RG-gene-mutation-causing-primary-combined-immunodeficiency-disease-A-case-report-and-literature-review,10,54632,1,1.htmlprimary severe combined immunodeficiency bronchiectasis il2rg gene mutation immunodeficiency pediatric respiratory diseases |
| spellingShingle | Fang Cao Yingyu Shi Fang Deng Yu Yan Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review Central European Journal of Immunology primary severe combined immunodeficiency bronchiectasis il2rg gene mutation immunodeficiency pediatric respiratory diseases |
| title | Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review |
| title_full | Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review |
| title_fullStr | Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review |
| title_full_unstemmed | Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review |
| title_short | Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review |
| title_sort | novel il2rg gene mutation causing primary combined immunodeficiency disease a case report and literature review |
| topic | primary severe combined immunodeficiency bronchiectasis il2rg gene mutation immunodeficiency pediatric respiratory diseases |
| url | https://www.termedia.pl/Novel-IL2RG-gene-mutation-causing-primary-combined-immunodeficiency-disease-A-case-report-and-literature-review,10,54632,1,1.html |
| work_keys_str_mv | AT fangcao novelil2rggenemutationcausingprimarycombinedimmunodeficiencydiseaseacasereportandliteraturereview AT yingyushi novelil2rggenemutationcausingprimarycombinedimmunodeficiencydiseaseacasereportandliteraturereview AT fangdeng novelil2rggenemutationcausingprimarycombinedimmunodeficiencydiseaseacasereportandliteraturereview AT yuyan novelil2rggenemutationcausingprimarycombinedimmunodeficiencydiseaseacasereportandliteraturereview |