ISSN:
1615-6102
Keywords:
Chediak—Higashi syndrome
;
Macrolysosomes
;
Major histocompatibility complex class II
;
Antigen presentation
;
Endosomal transport
;
Immunodeficiency
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
Notes:
Summary Chediak—Higashi syndrome is a rare human genetic disease causing severe immunodeficiencies and defects in pigmentation. The mutated gene codes for a large cytosolic protein with several domains mediating protein—protein interactions, playing a yet unclear role in endosomal membrane transport. Several genetic diseases with similar clinical characteristics (like the Griscelli, Hermansky—Pudlak, and Chediak—Higashi syndromes) also show related defects in intracellular membrane trafficking. Analyzing intracellular transport in cells from these patients shed light on the function of important players in lysosomal membrane traffic in effector cells of the immune system.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01276851
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