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Primary immunodeficiency. Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally. [1] To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease, drug treatment, or environmental exposure to ...
DiGeorge syndrome (when associated with thymic defects) TBX1 deficiency. CHARGE syndrome ( CHD7 deficiency or SEMA3E deficiency) Winged helix / FOXN1 deficiency. Chromosome 10p13-p14 deletion. Immuno-osseous dysplasias ( abnormal development of the skeleton with immune problems): Cartilage–hair hypoplasia.
Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal (GI) tract. Impairment can be of single or multiple nutrients depending on the abnormality. This may lead to malnutrition and a variety of anaemias. [1]
In adrenal insufficiency, there is a deficiency in cortisol production which may be accompanied by a deficiency in aldosterone production (predominantly in primary adrenal insufficiency). Depending on the cause and type of adrenal insufficiency, the mechanism of the disease differs. Generally, the symptoms manifest through the systemic effects ...
Endocrinology. Vitamin deficiency is the condition of a long-term lack of a vitamin. When caused by not enough vitamin intake it is classified as a primary deficiency, whereas when due to an underlying disorder such as malabsorption it is called a secondary deficiency. An underlying disorder can have 2 main causes:
Vitamin D deficiency is typically diagnosed by measuring the concentration of the 25-hydroxyvitamin D in the blood, which is the most accurate measure of stores of vitamin D in the body. [1] [7] [2] One nanogram per millilitre ( 1 ng/mL) is equivalent to 2.5 nanomoles per litre ( 2.5 nmol/L ). Severe deficiency: < 12 ng/mL = < 30 nmol/L [2 ...
HSCT (pre-symptomatic), Gene therapy (late infantile), Palliative. Prognosis. fatal. Frequency. 1 in 40,000 births. Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids.
Neutropenia. Neutropenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the blood. [4] Neutrophils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria, bacterial fragments and immunoglobulin -bound viruses in the blood. [5]