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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1007/bf00916694

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1435-232X

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A disease with immune deficiency skin abscesses

Authors: Yasuhide Yanabe Hiroyuki Nunoi Hiroyuki Tsuchiya Shigenori Higuchi Izumi Akaboshi Akihiko Kitano Masao S Sasaki Ichiro Matsuda
Publish Date: 1990/09
Volume: 35, Issue: 3, Pages: 263-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptA 19yearold girl is described with microcephaly short stature mental retardation pigmentation of the skin and recurrent skin abscesses over the whole body Her elder brother and sister both showed growth and developmental retardation microcephaly and anemia Both died during childhood Their parents were first cousins Laboratory studies of the proband revealed hyperchromic erythrocytes with an increased HbF content thrombocytopenia an impaired mitogenic response of the PHAstimulated lymphocytes and partial impairment of humoral and cellular immunity She developed pancytopenia in the terminal stage of the disease Cytogenetic studies of the bone marrow revealed 46XX 15p+ −18+mar karyotype increased chromosomal aberrations and sister chromatid exchanges in cultured lymphocytes and skin fibroblasts She died at age 20 Thus the disorder in the patient was deduced as an unclassified chromosomal breakage syndrome with an apparently autosomal recessive inheritance

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