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Severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report


Citation

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

Abstract

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.


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Additional Metadata

Item Type: Article
Divisions: Faculty of Medicine and Health Science
Publisher: Fakulti Perubatan dan Sains Kesihatan, Universiti Putra Malaysia
Keywords: SCID; HLH; Primary immunodeficiency
Depositing User: Ms. Che Wa Zakaria
Date Deposited: 11 Apr 2023 08:22
Last Modified: 11 Apr 2023 08:22
URI: http://psasir.upm.edu.my/id/eprint/95055
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