Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.

Background: Bruton's tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglobulinemia (XLA) is caused by mutation in the gene, which results in very low or absent B cells. Affected males have markedly reduced immunoglobulin levels, which render them susceptible to recurrent and severe bacterial infections.

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

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.

Paediatric in-patient prescribing errors in Malaysia: a cross-sectional multicentre study.

Background There is a lack of large comprehensive studies in developing countries on paediatric in-patient prescribing errors in different settings. Objectives To determine the characteristics of in-patient prescribing errors among paediatric patients. Setting General paediatric wards, neonatal intensive care units and paediatric intensive care units in government hospitals in Malaysia.

X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother.

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency (PID) caused by a dysfunctional respiratory burst enzyme NADPH-oxidase. The concurrence of Klinefelter's Syndrome (KS) and CGD would be extremely rare.

Objective: We describe the study of a family where the youngest male child had X-linked CGD (X-CGD) while his older brother was both an X-CGD carrier and a Klinefelter.

Echovirus 19 associated with a case of acute flaccid paralysis.

Acute flaccid paralysis can be caused by many members of the enterovirus genus, most notably the three poliviruses types 1 to 3. We report the case of acute flaccid paralysis caused by echovirus 19. The Western Pacific region has been declared polio free by the WHO since 2000.