X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).
Of 18 boys in Duncan kindred, 6 died of a lymphoproliferative disease. They exhibited a subtle, progressive combined variable immunodeficiency disease characterised by benign or malignant proliferation of lymphocytes, histiocytosis, and alterations in concentrations of serum-immunoglobulins. Infectious mononucleosis occurred during or preceding terminal events in at least 3 of the cousins. Fever, pharyngitis, lymphadenomegaly, hepatosplenomegaly, atypical lymphocytosis, and a spectrum ranging from agammaglobulinaemia to polyclonal hyper-gammaglobulinaemia occurred. At necropsy, the thymus gland and thymic-dependent areas in the lymph-nodes and spleen were depleted of lymphocytes. Diffuse infiltrates composed of lymphocytes, plasma cells, and histiocytes, some containing erythrocytes, invaded the haematopoietic organs, viscera, and central nervous system. In addition, 2 half-brothers had lymphomas of the ileum and central nervous system. Approximately half the boys, including the half-brothers, were affected, and girls were spared, implying sex-linked recessive inheritance. Various lymphohistiocytoses resemble Duncan's disease, but it is distinctive from them in the mode of inheritance or by histiological characteristics. This study suggests that the Epstein-Barr virus or other viruses triggered the fatal proliferation of lymphocytes and that progressive attrition of T-cell functions allowed uncontrolled lymphoproliferation.
D000328:Adult; D001344:Autopsy; D001706:Biopsy; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004854:Herpesvirus 4, Human; D006644:Histiocytes / Q000473:pathology; D006801:Humans; D007136:Immunoglobulins / Q000302:isolation & purification; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008198:Lymph Nodes / Q000473:pathology; D008214:Lymphocytes / Q000473:pathology; D008223:Lymphoma / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008297:Male; D010375:Pedigree; D012737:Sex Factors; D013601:T-Lymphocytes / Q000276:immunology; D013950:Thymus Gland / Q000473:pathology
D007136:Immunoglobulins