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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…

Acute Lymphoblastic Leukaemia

Overview Acute Lymphoblastic Leukaemia (ALL) is a malignancy of lymphoid cells. The two main ALL is T-cells ALL and B-cells ALL. In ALL there is uncontrolled proliferation of immature lymphoblasts in the bone marrow leading to overcrowding affecting other cell lineage. It is the commonest cancer in childhood, rare in adults and has a strong associated with…

Pre-menstrual Syndrome (PMS)

Overview Premenstrual syndrome is defined as recurrent moderate psychological and physical symptoms that occur during the luteal phase of menses and resolve with menstruation. Most women of reproductive age experience one or more mild emotional or physical symptoms for one to two days before the onset of menses. These symptoms, such as breast soreness and bloating,…

Polyarteritis Nodosa 

Overview Polyarteritis Nodosa (PAN) is a necrotising vasculitis that affects medium-sized muscular arteries, leading to transmural inflammation, fibrinoid necrosis, and subsequent aneurysm formation or ischemia. It does not involve arterioles, capillaries, or venules, and is not associated with ANCA. PAN can affect any organ except the lungs. It typically presents in middle-aged adults, more commonly…

Mitral Regurgitation (Incompetence)

Overview Mitral regurgitation (MR), which is also known as mitral insufficiency, is a common heart valve disorder. When MR is present, blood leaks backwards through the mitral valve when the heart contracts. This reduces the amount of blood that is pumped out to the body. Patients with acute mitral regurgitation (MR) are often gravely ill with…

Spondylarthropathy

Overview  The spondyloarthropathies are a diverse group of inflammatory arthritides that share certain genetic predisposing factors and clinical features. Their most characteristic feature is inflammatory back pain. Enthesitis, another characteristic feature, involves inflammation at sites where tendons, ligaments, or joint capsules attach to bone. Features of Spondylarthropathy Sacroiliac and spinal (axial involvement) Enthesitis at long attachments…

DiGeorge Syndrome

Overview DiGeorge syndrome (22q11.2 deletion syndrome) is a congenital immunodeficiency and multisystem disorder caused by a microdeletion on chromosome 22. It leads to defective development of the third and fourth pharyngeal pouches, resulting in thymic hypoplasia/aplasia, hypocalcaemia due to parathyroid hypoplasia, and congenital heart defects. Prevalence is estimated at 1 in 4000 live births. Clinical…

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