Suarez Felipe, Puget Sophie, Beaudet Raphaelle, Goulamhoussen Nilam, Hermine Olivier
Service d'hématologie adultes, et CEREDIH (centre de Référence des Déficits Immunitaires Héréditaires), Assistance Publique- Hôpitaux de Paris, hôpital Necker- Enfants Malades et faculté de médecine Paris Descartes, 75015 Paris, France.
Presse Med. 2010 Mar;39(3):e45-51. doi: 10.1016/j.lpm.2009.07.017. Epub 2010 Feb 1.
Primary Immunodeficiencies (PIDs) represent a heterogeneous group of rare diseases characterized by increased susceptibility to infections, often accompanied by a diverse immuno-pathological manifestations (autoimmunity, inflammation, benign or malignant lymphoproliferative disorders). The precise prevalence of PIDs in France is not known but is estimated to represent approximately 5 000 patients.
To better understand the situation of PID in France and gain an insight as to the care of these patients, we conducted a national survey by sending a questionnaire to physicians potentially involved in the care of PID patients.
The majority of physicians follow only a few PID patients but the diagnostic and therapeutic attitudes are generally satisfactory.
These results underscore the need to coordinate the care of PID patients in France as part of national networks. The approach adopted by the CEREDIH (French reference center for hereditary immune deficiencies) and DEF-I french national cohort identifying patients with DIP, will optimize the management of PID by defining diagnostic and therapeutic guidelines. In addition, these networks will provide valuable data regarding the incidence of PID and their complications.
原发性免疫缺陷病（PID）是一组罕见的异质性疾病，其特征为易感性增加，常伴有多种免疫病理表现（自身免疫、炎症、良性或恶性淋巴增殖性疾病）。法国PID的确切患病率尚不清楚，但估计约有5000名患者。
为了更好地了解法国PID的情况并深入了解这些患者的治疗情况，我们通过向可能参与PID患者治疗的医生发送问卷进行了一项全国性调查。
大多数医生仅诊治少数PID患者，但诊断和治疗态度总体上令人满意。
这些结果强调了在法国作为国家网络的一部分协调PID患者治疗的必要性。法国遗传性免疫缺陷参考中心（CEREDIH）和法国全国DIP患者队列DEF-I所采用的方法，将通过制定诊断和治疗指南来优化PID的管理。此外，这些网络将提供有关PID发病率及其并发症的宝贵数据。
