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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...

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Main Authors: Mohd Shukri, Nur Diyana, Abd Hamid, Intan Juliana, Mohamad, Norsarwany, Mahayidin, Hasni, Yahya, Nurul Khaiza
Format: Article
Language:English
Published: Fakulti Perubatan dan Sains Kesihatan, Universiti Putra Malaysia 2021
Online Access:http://psasir.upm.edu.my/id/eprint/95055/1/2021120708283420_MJMHS_0316.pdf
http://psasir.upm.edu.my/id/eprint/95055/
https://medic.upm.edu.my/jurnal_kami/volume_17_2021/mjmhs_vol17_supp_10_december_2021-64369
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spelling my.upm.eprints.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
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
language English
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.
format Article
author Mohd Shukri, Nur Diyana
Abd Hamid, Intan Juliana
Mohamad, Norsarwany
Mahayidin, Hasni
Yahya, Nurul Khaiza
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
author_facet Mohd Shukri, Nur Diyana
Abd Hamid, Intan Juliana
Mohamad, Norsarwany
Mahayidin, Hasni
Yahya, Nurul Khaiza
author_sort Mohd Shukri, Nur Diyana
title 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_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_sort severe combined immunodeficiency disease with features of haemophagocytic lymphohistiocytosis: a case report
publisher Fakulti Perubatan dan Sains Kesihatan, Universiti Putra Malaysia
publishDate 2021
url http://psasir.upm.edu.my/id/eprint/95055/1/2021120708283420_MJMHS_0316.pdf
http://psasir.upm.edu.my/id/eprint/95055/
https://medic.upm.edu.my/jurnal_kami/volume_17_2021/mjmhs_vol17_supp_10_december_2021-64369
_version_ 1762963282358960128
score 13.211869

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