Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report
Severe combined immunodeficiency (SCID) is the foremost extreme frame of primary immunodeficiencies. We described a case report of a 23-month-old boy who presented with pyrexia of unknown origin (PUO) with initial findings suggestive of haemophagocytic lymphohistiocytosis. Physical examination showe...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Fakulti Perubatan dan Sains Kesihatan, Universiti Putra Malaysia
2021
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| Online Access: | http://psasir.upm.edu.my/id/eprint/95055/ http://psasir.upm.edu.my/id/eprint/95055/1/2021120708283420_MJMHS_0316.pdf |
| _version_ | 1848862062472593408 |
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| author | Mohd Shukri, Nur Diyana Abd Hamid, Intan Juliana Mohamad, Norsarwany Mahayidin, Hasni Yahya, Nurul Khaiza |
| author_facet | Mohd Shukri, Nur Diyana Abd Hamid, Intan Juliana Mohamad, Norsarwany Mahayidin, Hasni Yahya, Nurul Khaiza |
| author_sort | Mohd Shukri, Nur Diyana |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | Severe combined immunodeficiency (SCID) is the foremost extreme frame of primary immunodeficiencies. We described a case report of a 23-month-old boy who presented with pyrexia of unknown origin (PUO) with initial findings suggestive of haemophagocytic lymphohistiocytosis. Physical examination showed unremarkable findings apart from hepatosplenomegaly. The diagnosis of SCID was established from lymphocyte enumeration testing by flow cytometry which revealed a phenotype of T(-), B(-), NK(-) and hypogammaglobulinaemia. The confirmatory genetic test was unable to be performed as the patient’s condition rapidly deteriorated and he succumbed to the illness. |
| first_indexed | 2025-11-15T13:11:03Z |
| format | Article |
| id | upm-95055 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T13:11:03Z |
| publishDate | 2021 |
| publisher | Fakulti Perubatan dan Sains Kesihatan, Universiti Putra Malaysia |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-950552023-04-11T08:22:22Z http://psasir.upm.edu.my/id/eprint/95055/ Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report Mohd Shukri, Nur Diyana Abd Hamid, Intan Juliana Mohamad, Norsarwany Mahayidin, Hasni Yahya, Nurul Khaiza Severe combined immunodeficiency (SCID) is the foremost extreme frame of primary immunodeficiencies. We described a case report of a 23-month-old boy who presented with pyrexia of unknown origin (PUO) with initial findings suggestive of haemophagocytic lymphohistiocytosis. Physical examination showed unremarkable findings apart from hepatosplenomegaly. The diagnosis of SCID was established from lymphocyte enumeration testing by flow cytometry which revealed a phenotype of T(-), B(-), NK(-) and hypogammaglobulinaemia. The confirmatory genetic test was unable to be performed as the patient’s condition rapidly deteriorated and he succumbed to the illness. Fakulti Perubatan dan Sains Kesihatan, Universiti Putra Malaysia 2021 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/95055/1/2021120708283420_MJMHS_0316.pdf Mohd Shukri, Nur Diyana and Abd Hamid, Intan Juliana and Mohamad, Norsarwany and Mahayidin, Hasni and Yahya, Nurul Khaiza (2021) Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report. Malaysian Journal of Medicine and Health Sciences, 17 (supp.10). 115 - 118. ISSN 1675-8544; ESSN: 2636-9346 https://medic.upm.edu.my/jurnal_kami/volume_17_2021/mjmhs_vol17_supp_10_december_2021-64369 |
| spellingShingle | Mohd Shukri, Nur Diyana Abd Hamid, Intan Juliana Mohamad, Norsarwany Mahayidin, Hasni Yahya, Nurul Khaiza Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report |
| title | Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report |
| title_full | Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report |
| title_fullStr | Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report |
| title_full_unstemmed | Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report |
| title_short | Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report |
| title_sort | severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report |
| url | http://psasir.upm.edu.my/id/eprint/95055/ http://psasir.upm.edu.my/id/eprint/95055/ http://psasir.upm.edu.my/id/eprint/95055/1/2021120708283420_MJMHS_0316.pdf |