MEDICINE Study Guide - Final Guide: Natural Killer Cell, Tsar, Neutropenia
9 Nov 2022
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Document Summary
Ch diak-higashi syndrome is an autosomal recessive immunodeficiency disorder. Ch diak-higashi syndrome affects all races and usually appears soon after birth or in children younger than five years. Easy bruisability and bleeding as a result of deficient platelet dense bodie. Impaired chemotaxis and bactericidal activity; and abnormal natural killer (nk) cell function. The disease is often fatal in childhood. Terminal phase characterized by nonmalignant lymphohistiocytic lymphoma like infiltration of multiple organs that occurs in more than 80% of patients. This stage is precipitated by virus infection, particularly by the. It is associated with anemia, bleeding episodes, and overwhelming infections leading to death. Infections secondary to abnormal functioning of polymorphonuclear leukocytes commonly involve the skin, the lungs, and the respiratory tract. Infections are usually caused by staphylococcus aureus, Very few patients live to adulthood and in these patients, a progressive neurologic dysfunction may be the dominant feature. Neurologic involvement is variable but often includes peripheral neuropathy.
