[Acanthocytosis in chronic septic granulomatosis: the McLeod syndrome].
Acanthocytosis was observed in a boy suffering from Chronic Granulomatous Disease (CGD). Further investigations revealed weak Kell-antigen-expression on the patient's erythrocytes. This so-called "McLeod-Syndrome" is due to the absence of Kx, the Kell antigen precursor substance. So far, 8 cases of an association between McLeod-Syndrome and CGD have been reported. Both genetic defects are closely linked on the X-chromosome and may therefore be inherited together. In female carriers, the variable inactivation of one X-chromosome according to the Lyon-hypothesis is the reason for the appearance of both normal and McLeod-erythrocytes at the same time. This was observed in the mother and sister of our patient too. Blood transfusions should be avoided, because McLeod-patients are at risk to form antibodies against the precursor substance Kx common to the erythrocytes of virtually all people. These patients should therefore be encouraged to donate blood which can be stored frozen and used either as autotransfusion (for the patient himself) or for other McLeod-patients.
D000050:Acanthocytes; D001424:Bacterial Infections / Q000235:genetics*; D001788:Blood Grouping and Crossmatching; D002648:Child; D004913:Erythrocytes, Abnormal; D005260:Female; D006580:Genetic Carrier Screening; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
D007626:Kell Blood-Group System
Akanthozytose bei septischer Granulomatose: McLeod-Syndrom.