Abstract
ICF syndrome (Immunodeficiency, Centromeric instability, in particular of chromosomes 1 and 16 and Facial dysmorphisms) was described in 1988 by Maraschio et al. (J Med Genet 25:173-180).
Here we present another case of ICF syndrome. The boy was born at 38 weeks, small for gestational age (2055 gram, 45 cm). During the first year he had a failure to thrive and a slight psychomotor retardation. At the age of 10 months, he suffered from RS bronchiolitis. Immunological studies revealed an agamma-globulinaemia (all immunoglobulins were absent). B cells were normal, as were T cell markers (CD2 58 %, CD3 56 %, CD4, 36 %, CD8 17 %). In vitro responses of peripheral blood cells to PHA and PWM were normal. He had a typical face. Cytogenetic studies revealed a normal 46 XY male karyotype, although half of the cells showed alterations (e.g. gaps, breaks, translocations, centromeric fusions, multiradial figures) in the centromeric regions of chromosomes 1 and 16.
During immunoglobulin substitution he did not suffer from infection but he ceased, growing, probably due to malabsorption.
Untill now, 15 patients with ICF syndrome are recognized. All but one had facial anomalies. All had immunodeficiency varying from IgA deficiency to SCID. A review of these patients will be given.
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Weemaes, C., Smeets, D., Bakkeren, J. et al. 378 ICF SYNDROME. Pediatr Res 36, 65 (1994). https://doi.org/10.1203/00006450-199407000-00378
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DOI: https://doi.org/10.1203/00006450-199407000-00378
