Syndrome of deficiency of membrane adhesive glycoproteins.
A rare autosomal recessive inherited disease is presented. Less than 100 cases were described so far (U.S.A., Europe, Japan, North Africa and Iran, respectively). The true incidence may be higher: children suffering from more serious forms of the disease may die before establishment of the diagnosis, and patients suffering from less serious forms may escape from the diagnosis. We call attention to this disease because diagnosis and therapy are available (in collaboration with institutes abroad) to patients from Czechoslovakia.
Bartůnková
J
J
Dept. of Clinical Immunology, Charles Univ. Prague, First Medical Faculty.
Fischer
A
A
Kmínek
A
A
D001424:Bacterial Infections; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007964:Leukocytosis; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency*; D013577:Syndrome
D008562:Membrane Glycoproteins