Diseases Archive Page 3 of 24 Armando Hasudungan

Severe Combined Immunodeficiency (SCID)

Rovelyn R August 29, 2025 No Comments

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…

Selective IgA Deficiency

Rovelyn R August 29, 2025 No Comments

Overview Selective IgA deficiency is the most common primary immunodeficiency, defined by very low or absent serum IgA levels with normal levels of other immunoglobulins (IgG, IgM). Many patients are…

Leukocyte Adhesion Deficiency

Rovelyn R August 29, 2025 No Comments

Overview Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency characterised by recurrent bacterial and fungal infections, impaired wound healing, and absence of pus formation due to defective leukocyte adhesion…

Hyper-IgE Syndrome (Job’s Syndrome)

Rovelyn R August 29, 2025 No Comments

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…

DiGeorge Syndrome

Rovelyn R August 29, 2025 No Comments

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…

Complement Deficiencies

Rovelyn R August 29, 2025 No Comments

Overview Complement deficiencies are rare primary immunodeficiencies resulting from inherited absence or dysfunction of complement proteins, regulators, or receptors. They predispose to recurrent bacterial infections, autoimmune disease (particularly systemic lupus…

Common Variable Immunodeficiency

Rovelyn R August 29, 2025 No Comments

Overview Common Variable Immunodeficiency (CVID) is the most frequent clinically significant primary antibody deficiency, characterised by hypogammaglobulinaemia and impaired antibody responses. It typically presents with recurrent bacterial infections, autoimmunity, granulomatous…

Hydatidiform Mole (Molar Pregnancy)

Rovelyn R August 29, 2025 No Comments

Overview Hydatidiform moles are part of a group of diseases falling under gestational trophoblastic disease. A hydatidiform mole refers to the abnormal growth of trophoblastic cells in the placenta, resulting…

Chronic Granulomatous Disease

Rovelyn R August 29, 2025 No Comments

Overview Chronic granulomatous disease (CGD) is a rare, inherited primary immunodeficiency characterised by defective function of the NADPH oxidase enzyme complex in phagocytes, leading to failure of the oxidative burst…

Microscopic Polyangiitis

Rovelyn R August 27, 2025 No Comments

Overview Microscopic polyangiitis (MPA) is a small-vessel necrotizing vasculitis, commonly associated with myeloperoxidase-ANCA (MPO-ANCA) positivity. It typically presents with glomerulonephritis and pulmonary capillaritis, but does not involve granulomatous inflammation, distinguishing…

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