Baba Laila Ait, Ailal Fatima, El Hafidi Naima, Hubeau Marjorie, Jabot-Hanin Fabienne, Benajiba Noufissa, Aadam Zahra, Conti Francesca, Deswarte Caroline, Jeddane Leila, Aglaguel Ayoub, El Maataoui Ouafaa, Tissent Ahmed, Mahraoui Chafiq, Najib Jilali, Martinez-Barricarte Ruben, Abel Laurent, Habti Norddine, Saile Rachid, Casanova Jean-Laurent, Bustamante Jacinta, Salih Alj Hanane, Bousfiha Ahmed Aziz
Laboratory of Biology and Health URAC34-Metabolic and Immunologic pathology Research Team, Faculty of Science of Ben M'sik, King Hassan II University, Casablanca, Morocco.
J Clin Immunol. 2014 May;34(4):452-8. doi: 10.1007/s10875-014-9997-3. Epub 2014 Mar 5.
Chronic granulomatous disease (CGD) is characterized by an inability of phagocytes to produce reactive oxygen species (ROS), which are required to kill some microorganisms. CGD patients are known to suffer from recurrent bacterial and/or fungal infections from the first year of life onwards. From 2009 to 2013, 12 cases of CGD were diagnosed in Morocco. We describe here these Moroccan cases of CGD.
We investigated the genetic, immunological and clinical features of 12 Moroccan patients with CGD from 10 unrelated kindreds.
All patients were children suffering from recurrent bacterial and/or fungal infections. All cases displayed impaired NADPH oxidase activity in nitroblue tetrazolium (NBT), dihydrorhodamine (DHR) or 2',7' dichlorofluorescein diacetate (DCFH-DA) assays. Mutation analysis revealed the presence of four different mutations of CYBB in four kindreds, a recurrent mutation of NCF1 in three kindreds, and a new mutation of NCF2 in three patients from a single kindred. A large deletion of CYBB gene has detected in a patient. The causal mutation in the remaining one kindred was not identified.
The clinical features and infectious agents found in these patients were similar to those in CGD patients from elsewhere. The results of mutation analysis differed between kindreds, revealing a high level of genetic and allelic heterogeneity among Moroccan CGD patients. The small number of patients in our cohort probably reflects a lack of awareness of physicians. Further studies on a large cohort are required to determine the incidence and prevalence of the disease, and to improve the description of the genetic and clinical features of CGD patients in Morocco.
慢性肉芽肿病（CGD）的特征是吞噬细胞无法产生活性氧（ROS），而ROS是杀死某些微生物所必需的。已知CGD患者从出生第一年起就会反复发生细菌和/或真菌感染。2009年至2013年，摩洛哥诊断出12例CGD病例。我们在此描述这些摩洛哥的CGD病例。
我们调查了来自10个无关家族的12名摩洛哥CGD患者的遗传、免疫和临床特征。
所有患者均为患有反复细菌和/或真菌感染的儿童。所有病例在硝基蓝四氮唑（NBT）、二氢罗丹明（DHR）或二乙酸2',7'-二氯荧光素（DCFH-DA）检测中均显示NADPH氧化酶活性受损。突变分析显示，四个家族中存在CYBB的四种不同突变，三个家族中存在NCF1的反复突变，来自单个家族的三名患者中存在NCF2的新突变。在一名患者中检测到CYBB基因的大片段缺失。其余一个家族中的致病突变未被识别。
这些患者的临床特征和感染病原体与其他地方的CGD患者相似。不同家族的突变分析结果不同，这表明摩洛哥CGD患者中存在高度的遗传和等位基因异质性。我们队列中的患者数量较少可能反映了医生对此认识不足。需要对更大的队列进行进一步研究，以确定该疾病的发病率和患病率，并改善对摩洛哥CGD患者遗传和临床特征的描述。
