A 20-month-old male patient was referred because of severe growth and mental retardation, bilateral glaucoma, hypospadias, and cryptorchidism. Karyotyping revealed a de novo complex three-chromosome rearrangement as well as deletion of band 11p13:46,XY,t(4;7;15)(q212;p14;q26)del(11)(p13p14). Trabeculectomia revealed bilateral aniridia. Surgery on the genitalia revealed male pseudohermaphroditism and bilateral gonadoblastoma. The kidneys were normal. A deficiency in catalase (CAT) activity allowed the regional assignment of the CAT gene to band 11p13.
Membrane receptors for Ig and IgG and receptors for immune complexes (C3) have been identified on the surface of histiocytosis X cells by direct immunofluorescence and by rosette formation. Histiocytosis X cells also avidly phagocytose human RBC and latex particles. The cells studied originated from three eosinophilic granulomas of bone and were maintained in culture for 12 days. These immunological characteristics suggest that histiocytosis X cells represent a neoplastic variant of a cellular subpopulation (Langerhans lineage) which probably belongs to the mononuclear phagocyte system.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.