X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)

Lancet. 1975 Apr 26;1(7913):935-40. doi: 10.1016/s0140-6736(75)92004-8.

Abstract

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.

MeSH terms

  • Adult
  • Autopsy
  • Biopsy
  • Cerebral Cortex / pathology
  • Child
  • Child, Preschool
  • Herpesvirus 4, Human
  • Histiocytes / pathology
  • Humans
  • Immunoglobulins / isolation & purification
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / pathology
  • Infant
  • Lymph Nodes / pathology
  • Lymphocytes / pathology
  • Lymphoma / genetics*
  • Lymphoma / immunology
  • Lymphoma / pathology
  • Male
  • Pedigree
  • Sex Factors
  • T-Lymphocytes / immunology
  • Thymus Gland / pathology

Substances

  • Immunoglobulins