FEMALES WITH A DISORDER PHENOTYPICALLY IDENTICAL TO X-LINKED AGAMMAGLOBULINEMIA

被引:42
作者
CONLEY, ME
SWEINBERG, SK
机构
[1] CHILDRENS HOSP PHILADELPHIA, PHILADELPHIA, PA USA
[2] UNIV TENNESSEE, CTR HLTH SCI, COLL MED, MEMPHIS, TN 38163 USA
关键词
B-CELLS; IMMUNODEFICIENCIES; X-CHROMOSOME; X-LINKED AGAMMAGLOBULINEMIA; HYPOGAMMAGLOBULINEMIA;
D O I
10.1007/BF00918144
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Clinical and laboratory findings in two girls with a disorder phenotypically indistinguishable from typical X-linked agammaglobulinemia (XLA) are described. To examine the possibility that subtle defects in the X chromosome might explain the findings, detailed genetic studies were performed on one of these patients. Cytogenetic studies showed a normal 46XX karyotype. Southern blot analysis of her DNA showed that she had inherited a maternal and a paternal allele at sites flanking the locus for typical XLA at Xq22, making a microdeletion or uniparental disomy unlikely. To determine whether both of her X chromosomes could function as the active X, somatic-cell hybrids that selectively retained the active X were produced from her activated T cells. A normal random pattern of X inactivation was seen. Of 21 T-cell hybrids, 3 retained both X chromosomes, 7 had one X as the active X, and 11 had the other X as the active X. We have interpreted these studies as indicating that there is an autosomal recessive disorder that is phenotypically identical to XLA.
引用
收藏
页码:139 / 143
页数:5
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