Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency

J Clin Invest. 1993 Mar;91(3):1214-8. doi: 10.1172/JCI116282.


We studied the radiosensitivity of granulocyte macrophage colony-forming units (GM-CFU) in patients with a severe combined immunodeficiency (SCID). Three patients lacking both mature T and B cells showed a twofold higher GM-CFU radiosensitivity calculated as the DO value (dose required to reduce survival to 37%), and an identical observation was made with fibroblasts from one of these patients. A patient with an SCID with hypereosinophilia, i.e., Omenn's syndrome characterized by extremely restricted T cell heterogeneity and a lack of B cells, also showed abnormal GM-CFU radiosensitivity. In contrast, GM-CFU from a patient lacking only T cells (X-linked form of SCID) showed normal GM-CFU radiosensitivity. These data further support the similarity between human T(-) B(-) SCID and the murine acid mutation characterized by a defect in T cell receptor and immunoglobulin gene rearrangement, and by an abnormal double-strand DNA break repair function. In addition, they strongly suggest that the Omenn's immunodeficiency syndrome may be a leaky T(-)B(-) SCID phenotype as previously indicated by the coexistence of the two phenotypes in siblings.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow / pathology
  • Cell Survival / radiation effects
  • Cells, Cultured
  • Colony-Forming Units Assay
  • DNA / genetics
  • DNA / isolation & purification
  • Dose-Response Relationship, Radiation
  • Fibroblasts / pathology
  • Fibroblasts / radiation effects
  • Genes, Recessive
  • Granulocytes / pathology
  • Granulocytes / radiation effects
  • Hematopoietic Stem Cells / cytology
  • Hematopoietic Stem Cells / pathology
  • Hematopoietic Stem Cells / radiation effects*
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Immunologic Deficiency Syndromes / pathology*
  • Infant
  • Macrophages / pathology
  • Macrophages / radiation effects
  • Male
  • Reference Values
  • Restriction Mapping
  • Skin / pathology
  • Skin / radiation effects*
  • T-Lymphocytes / immunology


  • DNA