X-linked lymphoproliferative syndrome. A new kindred with variable phenotypic expression.
A kindred with five affected maternally related male members showed variable phenotypic expression of the X-linked lymphoproliferative syndrome. In one of the children, agammaglobulinemia developed following infectious mononucleosis. His brother had aplastic anemia in infancy and 21/2 years later died of overwhelming pneumonia resulting from ornithosis. A third brother died of reticulum cell sarcoma. Two maternally related male cousins died of reticulum cell sarcoma of the neck.
D000293:Adolescent; D000328:Adult; D000361:Agammaglobulinemia / Q000235:genetics; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D007244:Infectious Mononucleosis / Q000235:genetics; D007694:Killer Cells, Natural / Q000276:immunology; D008223:Lymphoma / Q000235:genetics; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000235:genetics* / Q000276:immunology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014960:X Chromosome