Wolach Baruch, Gavrieli Ronit, de Boer Martin, Gottesman Giora, Ben-Ari Josef, Rottem Menachem, Schlesinger Yechiel, Grisaru-Soen Galia, Etzioni Amos, Roos Dirk
Department of Pediatrics, Meir Medical Center, Kfar Saba, Israel.
Clin Immunol. 2008 Oct;129(1):103-14. doi: 10.1016/j.clim.2008.06.012. Epub 2008 Aug 16.
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 p47(phox) 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.
慢性肉芽肿病（CGD）是一种先天性免疫缺陷病，由烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶成分之一的基因缺陷所致。在21年的时间里，38例以色列CGD患者被诊断出17种基因突变，其中7种是新发现的。完成了临床、功能和分子研究。虽然X连锁隐性（XLR）-CGD是全球该疾病最常见的基因型（约70%），但在我们的研究中，只有11例患者（29%）患有XLR-CGD。在以色列，常染色体隐性（AR）型CGD的较高发病率（63%）可能与近亲结婚有关。在3例患者（8%）中，NADPH氧化酶的所有四种蛋白质均存在。XLR和AR型均出现了严重的临床症状，但总体而言，AR-CGD的病情较轻，尤其是p47（phox）缺陷患者。尽管进行了早期积极治疗，但死亡率仍为26%。鉴于7例患者中有5例骨髓移植成功，建议在组织损伤不可逆转之前尽早进行骨髓移植。
