Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation
Perforin is essentially involved in the granule-dependent killing activities of cytotoxic T lymphocytes and NK cells. Monoallelic PRF1 mutation increases the risk of autoimmune diseases, and biallelic PRF1 mutation causes familial hemophagocytic lymphohistiocytosis-2. Here, we report a case of a 12-...
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Frontiers Media S.A.
2023-12-01
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| Serier: | Frontiers in Immunology |
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| Online adgang: | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1306338/full |
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| author | Lin-Yan Hu Lin-Yan Hu Lin Wan Lin Wan Qiu-Hong Wang Qiu-Hong Wang Qiu-Hong Wang Xiu-Yu Shi Xiu-Yu Shi Yan Meng Yan Meng Xiao-Fan Yang Guang Yang Guang Yang Guang Yang Li-Ping Zou Li-Ping Zou Li-Ping Zou |
| author_facet | Lin-Yan Hu Lin-Yan Hu Lin Wan Lin Wan Qiu-Hong Wang Qiu-Hong Wang Qiu-Hong Wang Xiu-Yu Shi Xiu-Yu Shi Yan Meng Yan Meng Xiao-Fan Yang Guang Yang Guang Yang Guang Yang Li-Ping Zou Li-Ping Zou Li-Ping Zou |
| author_sort | Lin-Yan Hu |
| collection | DOAJ |
| description | Perforin is essentially involved in the granule-dependent killing activities of cytotoxic T lymphocytes and NK cells. Monoallelic PRF1 mutation increases the risk of autoimmune diseases, and biallelic PRF1 mutation causes familial hemophagocytic lymphohistiocytosis-2. Here, we report a case of a 12-year-old girl with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), followed by a rapidly progressive onset of hemophagocytic lymphohistiocytosis (HLH) 9 months later, alongside manifestations of demyelinating encephalopathy. Genetic sequencing revealed a heterozygous nonsense mutation in the PRF1 gene (c.984G>A; p.W328*) and a heterozygous missense mutation in the PRF1 gene (c.1349C>T; p.T450M). Eventually, she died because of no suitable allogeneic hematopoietic stem cell available in time. Our observations suggest that CIPD might represent the initial phenotype of biallelic PRF1 mutation and could serve as an early sign of subsequent HLH. A comprehensive understanding of this condition is paramount for timely diagnosis, treatment, and ultimately improved patient outcomes. |
| first_indexed | 2024-03-09T01:12:04Z |
| format | Article |
| id | doaj.art-cb8632cdfeaf4621915ba50cae39760b |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-03-09T01:12:04Z |
| publishDate | 2023-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-cb8632cdfeaf4621915ba50cae39760b2023-12-11T04:37:44ZengFrontiers Media S.A.Frontiers in Immunology1664-32242023-12-011410.3389/fimmu.2023.13063381306338Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutationLin-Yan Hu0Lin-Yan Hu1Lin Wan2Lin Wan3Qiu-Hong Wang4Qiu-Hong Wang5Qiu-Hong Wang6Xiu-Yu Shi7Xiu-Yu Shi8Yan Meng9Yan Meng10Xiao-Fan Yang11Guang Yang12Guang Yang13Guang Yang14Li-Ping Zou15Li-Ping Zou16Li-Ping Zou17Senior Department of Pediatrics, The Seventh Medical Center of Chinese People's Liberation Army General Hospital, Beijing, ChinaDepartment of Pediatrics, The First Medical Centre, Chinese People's Liberation Army General Hospital, Beijing, ChinaSenior Department of Pediatrics, The Seventh Medical Center of Chinese People's Liberation Army General Hospital, Beijing, ChinaDepartment of Pediatrics, The First Medical Centre, Chinese People's Liberation Army General Hospital, Beijing, ChinaSenior Department of Pediatrics, The Seventh Medical Center of Chinese People's Liberation Army General Hospital, Beijing, ChinaDepartment of Pediatrics, The First Medical Centre, Chinese People's Liberation Army General Hospital, Beijing, ChinaGraduate School, Medical School of Chinese People's Liberation Army, Beijing, ChinaSenior Department of Pediatrics, The Seventh Medical Center of Chinese People's Liberation Army General Hospital, Beijing, ChinaDepartment of Pediatrics, The First Medical Centre, Chinese People's Liberation Army General Hospital, Beijing, ChinaSenior Department of Pediatrics, The Seventh Medical Center of Chinese People's Liberation Army General Hospital, Beijing, ChinaDepartment of Pediatrics, The First Medical Centre, Chinese People's Liberation Army General Hospital, Beijing, ChinaDepartment of Pediatrics, Shandong University Qilu Hospital, Jinan, Shandong, ChinaSenior Department of Pediatrics, The Seventh Medical Center of Chinese People's Liberation Army General Hospital, Beijing, ChinaDepartment of Pediatrics, The First Medical Centre, Chinese People's Liberation Army General Hospital, Beijing, ChinaGraduate School, Medical School of Chinese People's Liberation Army, Beijing, ChinaSenior Department of Pediatrics, The Seventh Medical Center of Chinese People's Liberation Army General Hospital, Beijing, ChinaDepartment of Pediatrics, The First Medical Centre, Chinese People's Liberation Army General Hospital, Beijing, ChinaGraduate School, Medical School of Chinese People's Liberation Army, Beijing, ChinaPerforin is essentially involved in the granule-dependent killing activities of cytotoxic T lymphocytes and NK cells. Monoallelic PRF1 mutation increases the risk of autoimmune diseases, and biallelic PRF1 mutation causes familial hemophagocytic lymphohistiocytosis-2. Here, we report a case of a 12-year-old girl with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), followed by a rapidly progressive onset of hemophagocytic lymphohistiocytosis (HLH) 9 months later, alongside manifestations of demyelinating encephalopathy. Genetic sequencing revealed a heterozygous nonsense mutation in the PRF1 gene (c.984G>A; p.W328*) and a heterozygous missense mutation in the PRF1 gene (c.1349C>T; p.T450M). Eventually, she died because of no suitable allogeneic hematopoietic stem cell available in time. Our observations suggest that CIPD might represent the initial phenotype of biallelic PRF1 mutation and could serve as an early sign of subsequent HLH. A comprehensive understanding of this condition is paramount for timely diagnosis, treatment, and ultimately improved patient outcomes.https://www.frontiersin.org/articles/10.3389/fimmu.2023.1306338/fullfamilial hemophagocytic lymphohistiocytosischronic inflammatory demyelinating polyradiculoneuropathydemyelination of the central nervous systemperforinperforinopathy |
| spellingShingle | Lin-Yan Hu Lin-Yan Hu Lin Wan Lin Wan Qiu-Hong Wang Qiu-Hong Wang Qiu-Hong Wang Xiu-Yu Shi Xiu-Yu Shi Yan Meng Yan Meng Xiao-Fan Yang Guang Yang Guang Yang Guang Yang Li-Ping Zou Li-Ping Zou Li-Ping Zou Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation Frontiers in Immunology familial hemophagocytic lymphohistiocytosis chronic inflammatory demyelinating polyradiculoneuropathy demyelination of the central nervous system perforin perforinopathy |
| title | Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation |
| title_full | Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation |
| title_fullStr | Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation |
| title_full_unstemmed | Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation |
| title_short | Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation |
| title_sort | case report chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis the initial phenotype of prf1 gene mutation |
| topic | familial hemophagocytic lymphohistiocytosis chronic inflammatory demyelinating polyradiculoneuropathy demyelination of the central nervous system perforin perforinopathy |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1306338/full |
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