Chronic granulomatous disease in Israel: Clinical, functional and molecular studies of 38 patients
详细信息 查看全文
- 作者：Baruch Wolach ; Ronit Gavrieli ; Martin de Boer ; Giora Gottesman ; Josef Ben-Ari ; Menachem Rottem ; Yechiel Schlesinger ; Galia Grisaru-Soen ; Amos Etzioni ; Dirk Roos
- 关键词：Chronic granulomatous disease ; Innate immune deficiency ; NADPH oxidase ; Genetic mutations ; Bone-marrow transplant
- 刊名：Clinical Immunology
- 出版年：2008
- 出版时间：October 2008
- 年：2008
- 卷：129
- 期：1
- 页码：103-114
- 全文大小：341 K
文摘
Chronic granulomatous disease (CGD) is an innate immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. In the course of 21 years, 38 Israeli CGD patients were diagnosed with 17 gene mutations, seven of which were new. Clinical, functional, and molecular studies were accomplished. Although X-linked recessive (XLR)-CGD is worldwide the most common genotype of the disease (~ 70 % ), in our study only 11 patients (29 % ) suffered from XLR-CGD. In Israel, the higher incidence of the autosomal recessive (AR) form of CGD (63 % ) may be related to consanguineous marriages. In three patients (8 % ), all four proteins of the NADPH oxidase were present. Severe clinical expression was found both in the XLR and AR forms, but in general a milder disease was evident in AR-CGD, particularly in patients with p47phox deficiency. Despite early and aggressive therapy, a mortality rate of 26 % was noted. Given that bone-marrow transplantation was successful in five of seven patients, it is recommended to perform it as early as possible before tissue damage is irreversible.