[Morphology of Chediak-Higashi syndrome].
The authors observed two boys born to cousin sib parents. The boys presented with a variant of primary immunodeficiency--Chediak-Higashi syndrome. The diagnosis was based mainly on the presence of giant azurophil granulations in proband phagocytes. The disease studied morphologically ran a specific course with development of reactive generalized histiocytosis and erythrophagia. The latter are thought to arise in response to defective phagocytosis. The patients suffered recurrent infections from which they died.
Katasonova
L P
LP
Ivanovskaia
T E
TE
Nazhimov
V P
VP
Elbakidze
I L
IL
D002609:Chediak-Higashi Syndrome / Q000235:genetics / Q000473:pathology*; D003241:Consanguinity; D006801:Humans; D007223:Infant; D008297:Male; D010586:Phagocytes / Q000473:pathology
Morfologiia sindroma Chediaka-Khigasi.