Four families with immunodeficiency and chromosome abnormalities.

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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) 2 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[bone marrow-derived]- and in T[thymus-derived]-lymphocytes (as evidenced by using both PHA[phytohemagglutinin]- and PWM[pokeweed mitogen]-stimulated cultures) in all probands, but 1 was mosaic in PHA culture, although all his PWM-stimulated cells were abnormal. Chromosomal variants were also detected in relatives of 3 and immunodeficiency in relatives of 2 patients.