Advertisement

Research Article Free access | 10.1172/JCI116282

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

M Cavazzana-Calvo, F Le Deist, G De Saint Basile, D Papadopoulo, J P De Villartay, and A Fischer

Institut National de la Santé et de la Recherche Médicale U 132, Hôpital Necker-Enfants Malades, Paris, France.

Find articles by Cavazzana-Calvo, M. in: PubMed | Google Scholar

Institut National de la Santé et de la Recherche Médicale U 132, Hôpital Necker-Enfants Malades, Paris, France.

Find articles by Le Deist, F. in: PubMed | Google Scholar

Institut National de la Santé et de la Recherche Médicale U 132, Hôpital Necker-Enfants Malades, Paris, France.

Find articles by De Saint Basile, G. in: PubMed | Google Scholar

Institut National de la Santé et de la Recherche Médicale U 132, Hôpital Necker-Enfants Malades, Paris, France.

Find articles by Papadopoulo, D. in: PubMed | Google Scholar

Institut National de la Santé et de la Recherche Médicale U 132, Hôpital Necker-Enfants Malades, Paris, France.

Find articles by De Villartay, J. in: PubMed | Google Scholar

Institut National de la Santé et de la Recherche Médicale U 132, Hôpital Necker-Enfants Malades, Paris, France.

Find articles by Fischer, A. in: PubMed | Google Scholar

Published March 1, 1993 - More info

Published in Volume 91, Issue 3 on March 1, 1993
J Clin Invest. 1993;91(3):1214–1218. https://doi.org/10.1172/JCI116282.
© 1993 The American Society for Clinical Investigation
Published March 1, 1993 - Version history
View PDF
Abstract

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.

Images.

Browse pages

Click on an image below to see the page. View PDF of the complete article

Version history
  • Version 1 (March 1, 1993): No description
Advertisement
Advertisement