Spontaneous Clostridium perfringens Meningitis and Brain Abscess in a Neonate.

This case describes a neonate who presented with spontaneous Clostridium perfringens meningitis and brain abscess. The abscess was drained, and the infant completed a 6-week course of antibiotics. Throughout this time the infant remained well with no need for intensive care. C. perfringens central nervous system infections are associated with trauma and poor outcomes. This case highlights that the spectrum of disease can include spontaneous infection with a relatively mildly clinical course demonstrating the importance of 16s polymerase chain reaction in culture-negative cases and its role in detecting rare causes of central nervous system infections such as C. perfringens .

Clinical spectrum of paediatric and adult eosinophilic oesophagitis in the North East of England from 2016 to 2019.

Background and study aims: Eosinophilic oesophagitis (EoE) is a common disease with a significant impact on physical health and quality of life (QoL). Outcomes and management vary widely, with no agreed UK national guideline. This paper aims to describe an up-to-date description of demographics, clinical spectrum and outcomes for paediatric and adult patients with EoE from the North East of England between 2016 and 2019. Patients and methods: Patients from two large University Hospitals and the specialist paediatric hospital for the North East of England with histologically or clinically confirmed EoE were included in this analysis. Data were collected retrospectively via electronic patient records. Remission was defined as either the resolution of symptoms or improvement on histology. Results: Data were collected on 74 paediatric and 59 adult patients. Dysphagia was the most common presenting symptom in both groups, accounting for 51%-84% of all presentations. Proton pump inhibitors and dietary manipulation were the most common therapies associated with remission in children (95% of those achieving remission), whereas the use of swallowed topical steroids was more prevalent in the treatment of adults (55% achieving remission). Conclusions: EoE is a complex disease and poses significant challenges. Outcomes vary widely and need to be tailored to individual patient groups. Dietary manipulation plays a major role in treatment for EoE, but this is likely to be challenging for patients, especially children. Future work should continue to assess the outcomes in EoE, including on QoL and potential novel targeted therapies.

Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia.

Since the first clinical description in 1952, immunoglobulin replacement therapy remains the mainstay of treatment of patients with X-linked agammaglobulinemia (XLA). However, this therapy only replaces IgG isotype and does not compensate for the loss of Bruton tyrosine kinase in non-B-lymphocytes. Patients may still therefore develop complications despite current standard of care. Here, we describe an XLA patient with persistent chronic norovirus infection, refractory to treatment and causing intestinal failure. The patient underwent haematopoietic stem cell transplantation, curing XLA and allowed clearance of norovirus prior to humoral immunoreconstitution, suggesting non-humoral immunodeficiency in these patients.

Immunoglobulin use in immune deficiency in the UK: a report of the UKPID and National Immunoglobulin Databases.

Supply of immunoglobulin in the UK faces pressures due to increasing demand, cost and variable supply. This paper describes immunoglobulin replacement therapy (IGRT) in primary immunodeficiency (PID) and secondary immunodeficiency (SID) to assist in the ongoing planning of UK immunoglobulin provision. A retrospective analysis of the National Immunoglobulin Database and the UKPID registry was carried out. In total, 3,222 patients are registered as receiving IGRT for immunodeficiencies. Predominately antibody disorders made up the largest diagnostic category (61% of patients). The total cost of IGRT for immunodeficiency for 2015/16 was £40,673,350; an average annual cost of £1,099,254 per centre and £12,124 per PID patient. SCIg accounted for 43.8% and 50.1% of IGRT, with home therapy accounting for 42.7% and 57.5% of place of therapy in the National Immunoglobulin Database and UKPID registry respectively. In 2015/16 use of immunoglobulin in SID increased by 24% over the previous financial year. The overall trends of increasing demand in immunology are mirrored in other specialties, most notably neurology and haematology. These data are the first national overview of IGRT for immunodeficiencies, providing a valuable resource for clinicians and policy makers in the ongoing management of UK immunoglobulin supply.

X-Linked Agammaglobulinaemia: Outcomes in the modern era.

Colonel Ogden Bruton reported X-Linked Agammaglobulinaemia in 1952 and treated the child with replacement immunoglobulin therapy. Over 60years later, the treatment for XLA has largely remained unchanged. Replacement immunoglobulin lacks the isotypes IgA and IgM, leading to concerns that patients continue to experience recurrent sinopulmonary tract infections and be at increased risk of bronchiectasis. There is potential hope of earlier diagnosis with newborn screening, and a potential cure for these patients, in the form of gene therapy. However, it is first necessary to evaluate current management and outcomes to aid decisions regarding further research and clinical trials. This article reviews current management and outcomes of XLA, whilst identifying gaps in our knowledge base that may need answering before we proceed with novel diagnostic methods and treatment for XLA.