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Immunoglobulin Deficiency in Bloom's Syndrome

Edgar J. Schoen, MD; Martin A. Shearn, MD
Am J Dis Child. 1967;113(5):594-596. doi:10.1001/archpedi.1967.02090200126017.
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AN UNUSUAL form of dwarfism characterized by low birthweight and a photosensitive, telangiectatic eruption over the butterfly area of the face was first described in 1954 by Bloom1 and has since been found to be characterized in addition by familial incidence,2 chromosomal breakage,3 and a tendency to acute leukemia.4 In a boy whose early clinical course was recently described by Bloom,5 we have observed an immunoglobulin deficiency which appears significant in view of reported associations between immunoglobulin deficiency and rheumatic disorders,6 and acute leukemia.7

Report of a Case  A boy born June 7, 1961, in whom at age 2½ years Dr. David Bloom had confirmed the diagnosis of Bloom's syndrome (case 15), has been observed at this hospital since the age of 2 years 7 months. Serum electrophoresis by Dr. Fabrizio Ferraris, when the patient was 3½ years of age, showed total

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