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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.
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:
A primary deficiency occurs when an organism does not get enough of the vitamin in its food. A secondary deficiency may be due to an underlying disorder that prevents or limits the absorption or use of the vitamin, due to a "lifestyle factor", such as smoking, excessive alcohol consumption, or the use of medications that interfere with the ...
Immunoglobulin A ( Ig A, also referred to as sIgA in its secretory form) is an antibody that plays a role in the immune function of mucous membranes. The amount of IgA produced in association with mucosal membranes is greater than all other types of antibody combined. [3]
Immunology. Adenosine deaminase deficiency ( ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts for about 10–20% of all cases of autosomal recessive forms of severe combined immunodeficiency (SCID) after excluding disorders related to inbreeding. [1] [2]
Addison's disease, also known as primary adrenal insufficiency, [4] is a rare long-term endocrine disorder characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of the cells of the adrenal glands ( adrenal cortex ), causing adrenal insufficiency. [5] [6] Symptoms generally come on slowly ...
Primary congenital alactasia Primary congenital alactasia, also called congenital lactase deficiency, is an extremely rare, autosomal recessive enzyme defect that prevents lactase expression from birth. People with congenital lactase deficiency cannot digest lactose from birth, so cannot digest breast milk.