SOCS1 insufficiency in systemic lupus erythematosus in a child: a case report
This case report details a 6-year-old Han Chinese girl diagnosed with Systemic Lupus Erythematosus (SLE) associated with a frameshift variant in the SOCS1 gene. Initially presenting with fever and rash, the patient exhibited abnormal liver function, hypocomplementemia, and positive antinuclear and a...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1618483/full |
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| author | Lu Cao Qin Wang Huating Zhang Jianjiang Zhang |
| author_facet | Lu Cao Qin Wang Huating Zhang Jianjiang Zhang |
| author_sort | Lu Cao |
| collection | DOAJ |
| description | This case report details a 6-year-old Han Chinese girl diagnosed with Systemic Lupus Erythematosus (SLE) associated with a frameshift variant in the SOCS1 gene. Initially presenting with fever and rash, the patient exhibited abnormal liver function, hypocomplementemia, and positive antinuclear and anti-dsDNA antibodies. Genetic testing identified a heterozygous frameshift mutation in the SOCS1 gene, inherited from her mother. The girl was treated with intravenous methylprednisolone, oral prednisolone, hydroxychloroquine, and mycophenolate mofetil, leading to significant clinical improvement. Considering the clinically relevant variant in SOCS1, the findings suggest that identifying pathogenic genes can facilitate the development of new therapeutic targets and biomarkers, with JAK inhibitors showing promise for treating SOCS1-related conditions. |
| format | Article |
| id | doaj-art-fd59c2a1a84d4d739932ddea48967119 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-fd59c2a1a84d4d739932ddea489671192025-08-20T03:28:01ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-07-011310.3389/fped.2025.16184831618483SOCS1 insufficiency in systemic lupus erythematosus in a child: a case reportLu CaoQin WangHuating ZhangJianjiang ZhangThis case report details a 6-year-old Han Chinese girl diagnosed with Systemic Lupus Erythematosus (SLE) associated with a frameshift variant in the SOCS1 gene. Initially presenting with fever and rash, the patient exhibited abnormal liver function, hypocomplementemia, and positive antinuclear and anti-dsDNA antibodies. Genetic testing identified a heterozygous frameshift mutation in the SOCS1 gene, inherited from her mother. The girl was treated with intravenous methylprednisolone, oral prednisolone, hydroxychloroquine, and mycophenolate mofetil, leading to significant clinical improvement. Considering the clinically relevant variant in SOCS1, the findings suggest that identifying pathogenic genes can facilitate the development of new therapeutic targets and biomarkers, with JAK inhibitors showing promise for treating SOCS1-related conditions.https://www.frontiersin.org/articles/10.3389/fped.2025.1618483/fullsystemic lupus erythematosusSOCS1 insufficiencychildphospholipid antibodycase report |
| spellingShingle | Lu Cao Qin Wang Huating Zhang Jianjiang Zhang SOCS1 insufficiency in systemic lupus erythematosus in a child: a case report Frontiers in Pediatrics systemic lupus erythematosus SOCS1 insufficiency child phospholipid antibody case report |
| title | SOCS1 insufficiency in systemic lupus erythematosus in a child: a case report |
| title_full | SOCS1 insufficiency in systemic lupus erythematosus in a child: a case report |
| title_fullStr | SOCS1 insufficiency in systemic lupus erythematosus in a child: a case report |
| title_full_unstemmed | SOCS1 insufficiency in systemic lupus erythematosus in a child: a case report |
| title_short | SOCS1 insufficiency in systemic lupus erythematosus in a child: a case report |
| title_sort | socs1 insufficiency in systemic lupus erythematosus in a child a case report |
| topic | systemic lupus erythematosus SOCS1 insufficiency child phospholipid antibody case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1618483/full |
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