Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report
X-linked lymphoproliferative disease (XLP1) is an inborn error of immunity (IEI) with severe immune dysregulation caused by a mutation in the SH2D1A gene resulting in the absence or dysfunction of signaling lymphocytic activation molecule (SLAM)-associated protein (SAP). The severe acute respiratory...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.794110/full |
| _version_ | 1828784116535918592 |
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| author | Ming Hin Chung Gilbert T. Chua Daniel Leung Koon Wing Chan John Nicholls Yu Lung Lau |
| author_facet | Ming Hin Chung Gilbert T. Chua Daniel Leung Koon Wing Chan John Nicholls Yu Lung Lau |
| author_sort | Ming Hin Chung |
| collection | DOAJ |
| description | X-linked lymphoproliferative disease (XLP1) is an inborn error of immunity (IEI) with severe immune dysregulation caused by a mutation in the SH2D1A gene resulting in the absence or dysfunction of signaling lymphocytic activation molecule (SLAM)-associated protein (SAP). The severe acute respiratory syndrome (SARS) caused by SARS-coronavirus (CoV), a highly pathogenic CoV, has been shown to only cause mild diseases in Asian children. We report on a 5-year-old Nepalese boy with agammaglobulinemia and probable SARS who died of diffuse alveolar damage 22 days after admission amid the SARS outbreak. The index patient and his younger brother were genetically confirmed to have XLP1. In the current coronavirus disease 2019 (COVID-19) pandemic, most children also had mild disease only. Children with severe COVID-19 would warrant investigations for underlying IEI, particularly along the pathways leading to immune dysregulation. |
| first_indexed | 2024-12-11T23:24:30Z |
| format | Article |
| id | doaj.art-58cd811cfbae48f9a111d6cc40e7a09a |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-11T23:24:30Z |
| publishDate | 2022-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-58cd811cfbae48f9a111d6cc40e7a09a2022-12-22T00:46:13ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-04-011010.3389/fped.2022.794110794110Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case ReportMing Hin Chung0Gilbert T. Chua1Daniel Leung2Koon Wing Chan3John Nicholls4Yu Lung Lau5Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, ChinaDepartment of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, ChinaDepartment of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, ChinaDepartment of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, ChinaDepartment of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, ChinaDepartment of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, ChinaX-linked lymphoproliferative disease (XLP1) is an inborn error of immunity (IEI) with severe immune dysregulation caused by a mutation in the SH2D1A gene resulting in the absence or dysfunction of signaling lymphocytic activation molecule (SLAM)-associated protein (SAP). The severe acute respiratory syndrome (SARS) caused by SARS-coronavirus (CoV), a highly pathogenic CoV, has been shown to only cause mild diseases in Asian children. We report on a 5-year-old Nepalese boy with agammaglobulinemia and probable SARS who died of diffuse alveolar damage 22 days after admission amid the SARS outbreak. The index patient and his younger brother were genetically confirmed to have XLP1. In the current coronavirus disease 2019 (COVID-19) pandemic, most children also had mild disease only. Children with severe COVID-19 would warrant investigations for underlying IEI, particularly along the pathways leading to immune dysregulation.https://www.frontiersin.org/articles/10.3389/fped.2022.794110/fullCOVID-19X-linked lymphoproliferative disease type 1 (XLP1)severe acute respiratory syndrome (SARS)agammaglobulinemiainborn error of immunity |
| spellingShingle | Ming Hin Chung Gilbert T. Chua Daniel Leung Koon Wing Chan John Nicholls Yu Lung Lau Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report Frontiers in Pediatrics COVID-19 X-linked lymphoproliferative disease type 1 (XLP1) severe acute respiratory syndrome (SARS) agammaglobulinemia inborn error of immunity |
| title | Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report |
| title_full | Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report |
| title_fullStr | Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report |
| title_full_unstemmed | Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report |
| title_short | Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report |
| title_sort | fatal sars in x linked lymphoproliferative disease type 1 a case report |
| topic | COVID-19 X-linked lymphoproliferative disease type 1 (XLP1) severe acute respiratory syndrome (SARS) agammaglobulinemia inborn error of immunity |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.794110/full |
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