Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome

Lancet. 1976 Oct 23;2(7991):882-5. doi: 10.1016/s0140-6736(76)90542-0.

Abstract

A new X-linked recessive lymphoproliferative syndrome has variable phenotypes: fatal infectious mononucleosis (I.M.), agammaglobulinaemia after I.M., American Burkitt's lymphoma, histiocytic lymphoma, immunoblastic sarcoma of B cells, or plasmacytoma. An immunodeficiency to rubeola and the Epstein-Barr virus probably ensues from the mutant gene. The phenotypes (spectrum of B-cell disorders) have a common inheritance and the aetiology is similar.

MeSH terms

  • Adolescent
  • Adult
  • Agammaglobulinemia / etiology
  • Agammaglobulinemia / genetics
  • B-Lymphocytes* / immunology
  • Child
  • Child, Preschool
  • Female
  • Herpesvirus 4, Human / immunology
  • Humans
  • Immunologic Deficiency Syndromes / complications
  • Infant
  • Infectious Mononucleosis / etiology
  • Infectious Mononucleosis / genetics
  • Lymphoma* / etiology
  • Lymphoma* / genetics
  • Lymphoma, Large B-Cell, Diffuse / genetics
  • Lymphoma, Large B-Cell, Diffuse / immunology
  • Male
  • Phenotype
  • Plasmacytoma / etiology
  • Plasmacytoma / genetics
  • Sarcoma / etiology
  • Sarcoma / genetics
  • Sex Chromosome Aberrations / complications
  • Syndrome