PMID: 11337742May 5, 2001Paper

Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl

American Journal of Medical Genetics
M YamadaK Kobayashi

Abstract

We report on an 11-year-old Japanese girl with combined immunodeficiency and chromosomal instability. She had postnatal growth deficiency and microcephaly, preaxial polydactyly of the left hand, and susceptibility to infections. Immunological studies showed marked lymphocytopenia (around 500/ll), reduced lymphocyte response to various mitogens, and reduced or absent serum IgA, IgG, and IgM. Cell biological studies of her primary skin fibroblasts demonstrated spontaneous chromosome aberrations and radiation hypersensitivity. The combination of immunodeficiency, chromosomal instability, and radiation hypersensitivity as seen in the girl is present in both ataxia-telangiectasia and Nijmegen breakage syndrome. Ataxia-telangiectasia was excluded because of differences in clinical features and laboratory data. Likewise, Nijmegen breakage syndrome is unlikely to be the case because the characteristic face, hyperpigmented spots, and mental retardation present in the syndrome were missing in the girl. Sequence analysis of a Nijmegen breakage syndrome responsible gene, NBS1, revealed no mutations. A normal NBS1 product was also demonstrated by immunoblot analysis using an anti-NBS1 antibody. We propose that the disorder in the girl repre...Continue Reading

References

Apr 1, 1986·European Journal of Pediatrics·M TsukaharaM S Sasaki
Jun 10, 1998·Nature Genetics·S MatsuuraK Komatsu

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Citations

Apr 19, 2003·Clinical Genetics·P MaraschioC Danesino
Jun 15, 2011·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Kerstin FelgentreffStephan Ehl
Mar 9, 2007·American Journal of Medical Genetics. Part a·Nariaki ToitaTadashi Ariga
Jan 8, 2004·Critical Reviews in Clinical Laboratory Sciences·Jeffrey E MingJohn M Graham

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