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[白细胞黏附蛋白表达缺陷。一例新的突尼斯病例]

[Deficient expression of leukocyte adhesion proteins. A new Tunisian case].

作者信息

Halioui-Louhaichi Sonia, Ben Hariz Mongi, Fathallah Dahmani Mohamed, Barbouch Mohamed Ridha, Mahmoudi Jouhaïna, Bejaoui Mohamed, Fischer Alain, Dellagi Kossay, Ben Ammar Bachra, Maherzi Ahmed

机构信息

Service de Pédiatrie, Hôipital Mongi Slim La Marsa.

出版信息

Tunis Med. 2006 Jul;84(7):464-6.

Abstract

Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency inherited as an autosomal recessive genetic disorder. LAD was suspected in a four days old girl. She was born from healthy first cousins. A family history of a boy who died from omphalitis and sepsis was reported. Our patient had the severe form, she had delayed umbilical cord separation and suffered recurrent infections. She had a deletion of the G at position 1497. The patient received bone marrow transplantation from her HLA-identical mother at age of 14 months. She is now 9 years old and in good health.

摘要

白细胞黏附缺陷症(LAD)是一种罕见的原发性免疫缺陷病,以常染色体隐性遗传病的方式遗传。一名4天大的女婴被怀疑患有LAD。她的父母是健康的近亲。据报告有一个男孩因脐炎和败血症死亡的家族病史。我们的患者患有严重型LAD,脐带脱落延迟且反复感染。她在1497位的G发生了缺失。该患者在14个月大时接受了来自其HLA匹配母亲的骨髓移植。她现在9岁,身体健康。

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