Two human diseases of platelet storage pool deficiency (SPD). Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. are recessively inherited disorders characterized by hypopigmentation. prolonged bleeding. and normal platelet counts accompanied by a reduction in dense granule number. We have recently described seven independent recessive mutations in the mouse regulated by separate genes whi...

Chemotaxis of mononuclear leukocytes from humans, mink, and cattle was evaluated in vitro using a morphologic Boyden chamber technique and a new labeled mononuclear radioassay with a double micropore filter system. Significantly decreased mononuclear leukocyte chemotactic responses were noted when human, mink, or cattle Chediak-Higashi cells were tested using autologous serum or endotoxin-activ...

1Languages and Informatic Systems, Technical University of Catalonia, Campus Nord, Ed.Omega C/Jordi, Girona 1-3, Barcelona, Catalonia 08304, Spain 2Department of Scientific Computing, University of Vienna, Nordbergstrasse 15/C308, 1090 Vienna, Austria 3Department of Information and Communication Engineering, Fukuoka Institute of Technology, 3-30-1 Wajiro-higashi, Higashi-ku, Fukuoka 811-0295, J...

Peripheral blood leukocytes of three patients with Chédiak-Higashi syndrome (CHS) contained very low or undetectable levels of elastase, the major neutral protease in these cells. Likewise, peritoneal exudate leukocytes of beige mice (the murine counterpart of CHS) contained correspondingly reduced levels of their major neutral protease, a serine enzyme of mol wt 27,000. The elastase deficiency...

Platelets from two probands homozygous for the Chediak-Higashi syndrome have approximately 10% of the normal number of serotonin-containing dense bodies as visualized electron microscopically in air-dried whole mounts. Since transport of serotonin across the platelet plasma membrane proceeds at a normal rate, and the few dense bodies present appear to store normal amounts of serotonin, the abse...

The presence of neutrophils and their precursors with peroxidase-positive and sudanophilic giant granules, which are characteristic of Chédiak-Higashi syndrome (CHS), in the fetal liver and blood of beige (CH), but not of the control C 57 Black, mice was observed. This finding supports the view that the prenatal diagnosis could be possible, if the fetal blood specimen is obtainable safely, assu...