Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.

Background: SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) has recently been shown to have a critical role in granulopoiesis in humans, mice, and zebrafish. Our patient presented with delayed cord separation, failure to thrive, and sepsis. Retrospective whole-exome sequencing confirmed a homozygous splice-site mutation in SMARCD2.

A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.

We present a case of complete deficiency of the interferon alpha/beta receptor alpha chain (IFNAR1) in a child with fatal systemic hyperinflammation, apparently provoked by live-attenuated viral vaccination. Such pathologic hyperinflammation, fulfilling criteria for hemophagocytic lymphohistiocytosis, is an emerging phenotype accompanying inborn errors of type I interferon immunity.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in .

Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset autoinflammatory disease and an elevated IFN signature. Whole-exome sequencing revealed a shared homozygous missense Arg148Trp variant in , a transcription factor that functions exclusively downstream of innate IFNs.

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Mutations in the coiled-coil and DNA-binding domains of STAT1 lead to delayed STAT1 dephosphorylation and subsequently gain-of-function. The associated clinical phenotype is broad and can include chronic mucocutaneous candidiasis (CMC) and/or combined immunodeficiency (CID). We report a case of CMC/CID in a 10-year-old boy due to a novel mutation in the small ubiquitin molecule (SUMO) consensus site at the C-terminal region of STAT1 leading to gain-of-function by impaired sumoylation.

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

Purpose: We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable, such as large heterozygous deletions.

Methods: Of a total of 12 undiagnosed patients with T-B+NK+ SCID, we analyzed eight probands by WES, using GATK to detect single nucleotide variants (SNVs) and small insertions and deletions (INDELs) and ExomeDepth to detect CNVs.

Principles of temperature monitoring.

Maintaining optimum body temperature is essential to life, and taking and recording a patient's temperature is a fundamental nursing skill. Deviation from the normal range of body temperature can be an important clinical indicator of altered physiological status requiring further investigation. Correct technique and careful recording are important for accuracy because clinicians rely on clinical observations to make diagnoses and decide on treatment.

Paying tribute to florence nightingale and Mary Seacole.

Lynn McDonald (letters May 16) says the grounds of St Thomas' Hospital in London are the wrong place for the proposed memorial statue to Mary Seacole, pointing out that the hospital is more associated with Florence Nightingale and her work.

Clinical audit: shining a light on good practice.

Healthcare organisations undertake quality assurance to produce safe and effective patient care systems. Statutory quality assurance requirements are met through external reviews, monitoring and inspection processes, and each NHS trust must produce a corporate annual quality account. However, this can result in approaching audits as if they are 'tick-box activities'.

A pilot study to evaluate the effectiveness of glargine and multiple injections of lispro in patients with type 2 diabetes receiving tube feedings in a cardiovascular intensive care unit.

Background: The purpose of this study was to evaluate the effectiveness of insulin lispro and insulin glargine at controlling blood glucose in patients with type 2 diabetes mellitus in a cardiovascular intensive care unit (CICU) and receiving enteral tube feedings.

Methods: This was a pilot study with a retrospective control designed to evaluate an insulin protocol in patients admitted to the CICU in a level 3 teaching institution. Patients were 18-99 years of age with type 2 diabetes mellitus, receiving bolus tube feeding.