Chediak Higashi syndrome
From Health Encyclopedia
Contents |
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Broader Terms
phagocytic dysfunction, syndrome
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Related Terms
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Scope Note
form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections; in many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions; transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
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Facts (generated by robot; please edit if you find it inaccurate)
- Chediak-Higashi syndrome Chediak-Higashi syndrome is inherited as an autosomal recessive disease.
- Thus Chediak-Higashi syndrome is a lysosomal disorder.
- Peripheral smear from a 17 year old female with Chediak-Higashi syndrome is shown.
- Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome.
- This is a congenital syndrome which is associated with neutropenia which may come to your attention in this way; the cardinal feature of Chediak-Higashi syndrome is related to an inability of cells in general - neuronal cells, mesenchymal cells, blood cells - to form cytoplasmic granules normally.
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