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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.

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

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

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

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

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

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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
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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.

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