X-linked thrombocytopenia in a girl

被引：20

作者：

Inoue, H

Kurosawa, H ^{[1
]}

Nonoyama, S

Imai, K

Kumazaki, H

Matsunaga, T

Sato, Y

Sugita, K

Eguchi, M

机构：

[1] Dokkyo Univ, Sch Med, Dept Paediat, Div Haematol, Mibu, Tochigi 32102, Japan

[2] Tokyo Med & Dent Univ, Dept Paediat, Tokyo, Japan

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2002年 / 118卷 / 04期

关键词：

X-linked thrombocytopenia; Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome protein; X-chromosome inactivation; human androgen receptor gene;

D O I：

10.1046/j.1365-2141.2002.03740.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report X- linked thrombocytopenia (XLT) in a 6- year- old girl with petechiae and thrombocytopenia from the age of 3 months. Her 2- year- old brother was also diagnosed with XLT. The Wiskott- Aldrich syndrome protein (WASP) gene was detected as a replacement of +5th G to A on intron 6 using sequence analysis, and the WASP expression levels in this patient were one- third those of a healthy control. The X- inactivation analysis of the patients lymphocytes showed a random pattern of X- chromosome inactivation. To our knowledge, this is the first confirmed report of XLT in a female.

引用

页码：1163 / 1165

页数：3

共 12 条

[11] A PCR-based non-radioactive X-Chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies [J].