[X-linked lymphoproliferative syndrome].
This report deals with the case history of a 21/2-year old Turkish boy, who died from an overwhelming mononucleosis infectiosa. The parents, first cousins, lost already two sons and a daughter. According to the parents, the symptoms of these children resembled those of this boy. In the patient, described here, an acquired immunodeficiency was found, probably induced by the Epstein-Barr virus on the basis of a genetic susceptibility for this virus. The family history, the clinical picture, together with the serological, immunological - and histological examinations, pointed to the diagnosis of X-linked recessive lymfoproliferative syndrome (XLP), as described by Purtilo. The immunological findings resemble those of AIDS (acquired immunodeficiency syndrome).
D000163:Acquired Immunodeficiency Syndrome / Q000150:complications; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007244:Infectious Mononucleosis / Q000150:complications*; D008232:Lymphoproliferative Disorders / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014960:X Chromosome
Het X-gebonden lymfoproliferatieve syndroom.