SCHIMKE IMMUNO-OSSEOUS DYSPLASIA - A NEWLY RECOGNIZED MULTISYSTEM DISEASE

被引：103

作者：

SPRANGER, J

HINKEL, GK

STOSS, H

THOENES, W

WARGOWSKI, D

ZEPP, F

机构：

[1] UNIV MAINZ, CHILDRENS HOSP, W-6500 MAINZ, GERMANY

[2] UNIV MAINZ, DEPT PATHOL, W-6500 MAINZ, GERMANY

[3] MED ACAD CARL GUSTAV CARUS, CHILDRENS HOSP, DRESDEN, GERMANY

[4] UNIV ERLANGEN NURNBERG, DEPT PATHOL, W-8520 ERLANGEN, GERMANY

[5] CLIN GENET CTR, MADISON, WI USA

来源：

JOURNAL OF PEDIATRICS | 1991年 / 119卷 / 01期

关键词：

D O I：

10.1016/S0022-3476(05)81040-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.

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页码：64 / 72

页数：9

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