Picard C
Centre d'étude des déficits immunitaires (CEDI), pavillon Kirmisson, hôpital Necker-Enfants Malades, AP-HP, 149, rue de Sèvres, 75015 Paris, France.
Arch Pediatr. 2013 Apr;20(4):412-7. doi: 10.1016/j.arcped.2013.01.007. Epub 2013 Mar 6.
The identification of primary immunodeficiency is important in the prognosis and treatment of patients with these rare genetic diseases. For their diagnosis, simple screening explorations need to be carried out in case of severe, recurrent, and/or unusual infections. These include the whole blood cell count, plasmatic immunoglobulin levels, and postimmunization and/or post-infectious serologies. These examinations are used to guide the diagnosis with the joint analysis of patient's medical history, the clinical examination, and screening of biological results. They will then guide the prescription of more specific second-line explorations depending on the type of primary immunodeficiency suspected.
原发性免疫缺陷的识别对于这些罕见遗传病患者的预后和治疗至关重要。对于其诊断，在出现严重、反复和/或不寻常感染的情况下，需要进行简单的筛查检查。这些检查包括全血细胞计数、血浆免疫球蛋白水平以及免疫接种后和/或感染后的血清学检查。这些检查用于通过结合分析患者的病史、临床检查和生物学检查结果来指导诊断。然后，根据怀疑的原发性免疫缺陷类型，它们将指导开具更具体的二线检查项目。
