A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Purpose: Human serine/threonine kinase 4 (STK4) deficiency is a rare, autosomal recessive genetic disorder leading to combined immunodeficiency; however, the extent to which immune signaling and host defense are impaired is unclear. We assessed the functional consequences of a novel, homozygous nonsense STK4 mutation (NM_006282.2:c.

COVID-19 related multisystem inflammatory syndrome in children (MIS-C): a case series from a tertiary care pediatric hospital in Qatar.

Background: Multisystem Inflammatory Syndrome in Children (MIS-C) is a severe complication of coronavirus disease 2019 (COVID-19) in children, which is increasingly being reported worldwide. Here we report the first case series of 7 children diagnosed with MIS-C in Qatar.

Methods: Clinical features and outcomes of COVID-19 positive patients admitted to Sidra Medicine, Qatar from June to October 2020, who met the WHO case definition for MIS-C were reviewed.

Peritoneal Dialysis-Associated Peritonitis Caused by in Children-A Case Report.

Peritoneal dialysis (PD)-associated peritonitis constitutes a major complication associated with the procedure. PD-associated peritonitis caused by nontuberculous mycobacteria, usually as a result of an infection related to the PD catheter, has been reported in adults and is associated with significant complications and poor outcome. The management of PD-associated peritonitis caused by is particularly challenging because this species is resistant to many antimicrobials commonly used to treat mycobacterial species.

A metagenomics-based diagnostic approach for central nervous system infections in hospital acute care setting.

The etiology of central nervous system (CNS) infections such as meningitis and encephalitis remains unknown in a large proportion of cases partly because the diversity of pathogens that may cause CNS infections greatly outnumber available test methods. We developed a metagenomic next generation sequencing (mNGS)-based approach for broad-range detection of pathogens associated with CNS infections suitable for application in the acute care hospital setting. The analytical sensitivity of mNGS performed on an Illumina MiSeq was assessed using simulated cerebrospinal fluid (CSF) specimens (n = 9).

Unusual accumulation of a wide array of antimicrobial resistance mechanisms in a patient with cytomegalovirus-associated hemophagocytic lymphohistiocytosis: a case report.

Background: Infections with multidrug-resistant organisms (MDRO) pose a serious threat to patients with dysregulated immunity such as in hemophagocytic lymphohistiocytosis (HLH), but such infections have rarely been comprehensively characterized. Here, we present a fatal case of HLH secondary to cytomegalovirus (CMV) infection complicated by both anti-viral drug resistance and sepsis from multiple MDROs including pandrug-resistant superbug bacteria.

Case Presentation: A previously healthy, six-year-old boy presented with a 45-day history of fever prior to a diagnosis of hemophagocytic lymphohistiocytosis and hemorrhagic colitis, both associated with CMV.

Clinical presentation of acute bacterial meningitis in Qatar.

Objective: To study the changes in the epidemiology of bacterial meningitis in the era of the Hemophilus influenzae (H. influenzae) type b vaccine and pneumoccous resistance.

Methods: Retrospective study which included patients admitted to Hamad Medical Corporation, Doha, Qatar between January 1998 through to December 2000 with positive cerebrospinal fluid culture.

Epidemiology of neonatal meningitis in Qatar.

Objective: Neonatal meningitis is responsible for thousands of neonatal deaths annually all over the world. Our study was conducted to determine the epidemiology, management and best preventive measures for neonatal meningitis in Qatar.

Methods: A retrospective study reviewed the records of bacterial meningitis patients under the age of one month.

Epidemiology of neonatal meningitis in Qatar.

Objective: Neonatal meningitis is responsible for thousands of neonatal deaths annually all over the world. Our study was conducted to determine the epidemiology, management and best preventive measures for neonatal meningitis in Qatar.

Methods: A retrospective study reviewed the records of bacterial meningitis patients under the age of one month.