Publications by authors named "Wong Ke Juin"

5 Publications

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A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.

Clin Exp Immunol 2021 Jun 1. Epub 2021 Jun 1.

Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.

Primary immunodeficiency diseases refer to inborn errors of immunity (IEI) that affect the normal development and function of the immune system. The phenotypical and genetic heterogeneity of IEI have made their diagnosis challenging. Hence, whole-exome sequencing (WES) was employed in this pilot study to identify the genetic etiology of 30 pediatric patients clinically diagnosed with IEI. The potential causative variants identified by WES were validated using Sanger sequencing. Genetic diagnosis was attained in 46.7% (14 of 30) of the patients and categorized into autoinflammatory disorders (n = 3), diseases of immune dysregulation (n = 3), defects in intrinsic and innate immunity (n = 3), predominantly antibody deficiencies (n = 2), combined immunodeficiencies with associated and syndromic features (n = 2) and immunodeficiencies affecting cellular and humoral immunity (n = 1). Of the 15 genetic variants identified, two were novel variants. Genetic findings differed from the provisional clinical diagnoses in seven cases (50.0%). This study showed that WES enhances the capacity to diagnose IEI, allowing more patients to receive appropriate therapy and disease management.
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http://dx.doi.org/10.1111/cei.13626DOI Listing
June 2021

Blackheads, whiteheads, femoral head.

J Paediatr Child Health 2016 Jul;52(7):781

Infectious Diseases Unit, The Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.13082DOI Listing
July 2016

Congenital Tuberculosis Complicated by Hemophagocytic Lymphohistiocytosis.

Pediatr Infect Dis J 2016 Jan;35(1):108-10

From the *Infectious Diseases Unit, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia; †Division of Pediatric Infectious Diseases, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada; ‡Murdoch Children's Research Institute; §Department of General Medicine, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia; ¶Paediatric Department, Likas Women's and Children's Hospital, Sabah, Malaysia; and ‖Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.

We present the case of a male infant with congenital tuberculosis in a nonendemic setting complicated by hemophagocytic lymphohistiocytosis, who was treated successfully with antituberculous therapy and corticosteroids. We review the pediatric literature concerning the unusual association of these 2 rare conditions.
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http://dx.doi.org/10.1097/INF.0000000000000932DOI Listing
January 2016

Bullous herpes zoster.

J Pediatr 2014 Mar 16;164(3):667. Epub 2013 Nov 16.

Infectious Diseases Unit, Department of General Medicine, The Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2013.10.026DOI Listing
March 2014

Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.

Eur J Pediatr 2013 Sep 29;172(9):1277-81. Epub 2013 Jan 29.

Biochemistry Unit, Specialised Diagnostic Centre, Institute for Medical Research, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.

Unlabelled: Lysinuric protein intolerance (LPI; MIM 222700) is an inherited aminoaciduria with an autosomal recessive mode of inheritance. Biochemically, affected patients present with increased excretion of the cationic amino acids: lysine, arginine, and ornithine. We report the first case of LPI diagnosed in Malaysia presented with excessive excretion of homocitrulline. The patient was a 4-year-old male who presented with delayed milestones, recurrent diarrhea, and severe failure to thrive. He developed hyperammonemic coma following a forced protein-rich diet. Plasma amino acid analysis showed increased glutamine, alanine, and citrulline but decreased lysine, arginine and ornithine. Urine amino acids showed a marked excretion of lysine and ornithine together with a large peak of unknown metabolite which was subsequently identified as homocitrulline by tandem mass spectrometry. Molecular analysis confirmed a previously unreported homozygous mutation at exon 1 (235 G > A, p.Gly79Arg) in the SLC7A7 gene. This report demonstrates a novel mutation in the SLC7A7 gene in this rare inborn error of diamino acid metabolism. It also highlights the importance of early and efficient treatment of infections and dehydration in these patients.

Conclusion: The diagnosis of LPI is usually not suspected by clinical findings alone, and specific laboratory investigations and molecular analysis are important to get a definitive diagnosis.
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http://dx.doi.org/10.1007/s00431-013-1947-1DOI Listing
September 2013
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