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X-linked Agammaglobulinaemia (XLA / Bruton’s Disease)

Overview X-linked agammaglobulinaemia (XLA) is a rare primary immunodeficiency caused by mutations in the Bruton’s tyrosine kinase (BTK) gene , leading to failure of B-cell maturation. It results in profound hypogammaglobulinaemia and susceptibility to recurrent bacterial infections, particularly with encapsulated organisms. It usually presents after 6 months of age (once maternal IgG wanes). Prevalence is…

Stroke (Ischaemic and Haemorrhagic)

Overview Third most common cause of death worldwide and most common cause of neurological disability. It is subdivided into ischaemic stroke (caused by vascular occlusion or stenosis) and haemorrhagic stroke (caused by vascular rupture, resulting in intra-parenchymal and/or subarachnoid haemorrhage). Stroke: Acute onset of a focal neurologic deficit due to a cerebral infarction or hemorrhage. Transient Ischaemic…

Acute Coronary Syndrome

Overview Coronary artery obstruction or rupture can result in a variety of ischaemic condition which fall under the term of acute coronary syndrome. This does not include stable angina. Ischaemic heart disease is the leading cause of death world wide. The mortality of myocardial infarction is believed to be 45% with 70% of these deaths…

Resuscitation of Newborn

Overview The successful transition from intrauterine to extrauterine life is dependent upon significant physiologic changes that occur at birth. Successful transition – 90% Need some intervention – 10% Require extensive resuscitative measures -  1% High-risk delivery Infants who are more likely to require resuscitation can be identified by the presence of one or more of…

Hyper-IgE Syndrome (Job’s Syndrome)

Overview Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterised by markedly elevated serum IgE, recurrent staphylococcal skin and lung infections, eczema, and connective tissue/ skeletal abnormalities. Most commonly caused by autosomal dominant mutations in STAT3 , it results in impaired Th17 cell differentiation and defective neutrophil chemotaxis. Autosomal recessive forms (DOCK8, TYK2 mutations) present…

Severe Combined Immunodeficiency (SCID)

Overview Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency, characterised by profound defects in both humoral (B-cell) and cellular (T-cell) immunity. It presents in infancy with recurrent, severe, and opportunistic infections, chronic diarrhoea, and failure to thrive. Without curative therapy, most infants die within the first year of life. Incidence is…

Rheumatoid Arthritis

Overview Rheumatoid arthritis is a common systemic inflammatory disease characterized by the presence of a destructive polyarthritis with a predisposition for affecting the small joints of the hands and feet and the wrists. Rheumatoid arthritis (RA) is the most common inflammatory arthritis, with a lifetime prevalence of up to 1 percent worldwide. Like many autoimmune diseases, the etiology…

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