Type 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young woman.

We report the case of a woman in her early 20s with a history of recurrent infection, atopic dermatitis, filariasis and bilateral purulent ear discharge since childhood with tonsillar enlargement on examination. She was started on supportive care and evaluated for primary immunodeficiency disease. Blood investigations revealed increased IgM levels with reduced IgG, IgA and IgE levels. Radiological imaging of the chest revealed bilateral bronchiectasis. Otoscopic examination showed features suggestive of chronic suppurative otitis media. Next-generation sequencing identified homozygous single base pair deletion in exon 2 of the activation-induced cytidine deaminase gene. Thus, a diagnosis of hyper-IgM syndrome type 2 was confirmed. The patient was started on monthly intravenous immunoglobulin replacement therapy and is currently symptomatically better, and she remains under regular follow-up.

Acute Cerebellar Ataxia: A Rare Association of Hepatitis a Infection.

Acute cerebellar ataxia (ACA) is a self-limited syndrome that is frequently post-infectious, most commonly following Varicella infection having an autoimmune mechanism. ACA is the commonest cause of childhood ataxia. We report a 14-year-old male who presented with acute onset wide-based gait and slurring of speech with dysdiadochokinesia, incoordination of voluntary movements, pendular knee jerk, and intentional tremors. He had worsening transaminitis and rising bilirubin during his hospital course and was subsequently found to be hepatitis A virus (HAV) immunoglobulin-M antibody positive. Thus, we report a case of ACA with HAV infection who developed jaundice after three weeks of onset of ataxia, a rarity that has not been reported so far in medical literature.

Acanthamoeba meningoencephalitis causing secondary hemophagocytic lymphohistiocytosis in an immunocompetent patient: A first case report.

Acanthamoeba is a rare cause of granulomatous amoebic encephalitis (GAE) associated with high mortality. There have been few case reports of Acanthamoeba meningoencephalitis worldwide. Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory condition caused by abnormally active macrophages and cytotoxic T lymphocytes; its secondary form is due to infections or malignancies. However, HLH is rather an unknown complication of GAE. We describe an unusual and previously unreported case of Acanthamoeba meningoencephalitis in a young immunocompetent female culminating in secondary HLH.

Understanding why at-risk population segments do not seek care for tuberculosis: a precision public health approach in South India.

INTRODUCTION: Delaying care-seeking for tuberculosis (TB) symptoms is a major contributor to mortality, leading to worse outcomes and spread. To reduce delays, it is essential to identify barriers to care-seeking and target populations most at risk of delaying. Previous work identifies barriers only in people within the health system, often long after initial care-seeking. METHODS: We conducted a community-based survey of 84 625 households in Chennai, India, to identify 1667 people with TB-indicative symptoms in 2018-2019. Cases were followed prospectively to observe care-seeking behaviour. We used a comprehensive survey to identify care-seeking drivers, then performed multivariate analyses to identify care-seeking predictors. To identify profiles of individuals most at risk to delay care-seeking, we segmented the sample using unsupervised clustering. We then estimated the per cent of the TB-diagnosed population in Chennai in each segment. RESULTS: Delayed care-seeking characteristics include smoking, drinking, being employed, preferring different facilities than the community, believing to be at lower risk of TB and believing TB is common. Respondents who reported fever or unintended weight loss were more likely to seek care. Clustering analysis revealed seven population segments differing in care-seeking, from a retired/unemployed/disabled cluster, where 70% promptly sought care, to a cluster of employed men who problem-drink and smoke, where only 42% did so. Modelling showed 54% of TB-diagnosed people who delay care-seeking might belong to the latter segment, which is most likely to acquire TB and least likely to promptly seek care. CONCLUSION: Interventions to increase care-seeking should move from building general awareness to addressing treatment barriers such as lack of time and low-risk perception. Care-seeking interventions should address specific beliefs through a mix of educational, risk perception-targeting and social norms-based campaigns. Employed men who problem-drink and smoke are a prime target for interventions. Reducing delays in this group could dramatically reduce TB spread.