Four families with immunodeficiency and chromosome abnormalities

Abstract

Six children with severe deficiency of some or all of the immunoglobulins and minor somatic abnormalities, had chromosomal abnormalities: (1) 45,XY,t(13q/18q), (2) 46,XY,21ps+, (3) two brothers 46,XY (inv. 7), (4) 45,X,t(11p/10p)/46X,iXq,t(11p/10p) and, (5) in addendum, 45,XX,-18; 46,XX,r18. The chromosome abnormalities were detected in B- as well as T-lymphocytes (as evidenced by using both PHA- and PMW-stimulated cultures) in all probands, but one was mosaic in PHA culture, although all his PMW-stimulated cells were abnormal. Chromosomal variants were also detected in relatives of three and immunodeficiency in relatives of two.