University of Missouri School of Medicine, Columbia, MO 65212, USA. reustc@ health.missouri.edu
Am Fam Physician. 2013 Jun 1;87(11):773-8.
One in 2,000 children younger than 18 years is thought to have a primary immunodeficiency disease. Antibody, combined B-cell and T-cell, phagocytic, and complement disorders are the most common types. Children with these diseases tend to have bacterial or fungal infections with unusual organisms, or unusually severe and recurrent infections with common organisms. A family history of primary immunodeficiency disease is the strongest predictor of a person having this type of disease. When an immunodeficiency disease is suspected, initial laboratory screening should include a complete blood count with differential and measurement of serum immunoglobulin and complement levels. The presence of lymphocytopenia on complete blood count suggests a T-cell disorder, whereas a finding of neutropenia suggests a phagocytic disorder. Abnormal serum immunoglobulin levels suggest a B-cell disorder. Abnormalities on assay of the classic or alternative complement pathways suggest a complement disorder. If laboratory results are abnormal, or if clinical suspicion continues despite normal laboratory results, children should be referred for further evaluation. Human immunodeficiency virus infection should also be considered, and testing should be performed, if appropriate; this infection often clinically resembles a T-cell disorder.
据估计，每 2000 名 18 岁以下的儿童中就有 1 人患有原发性免疫缺陷病。抗体、联合 B 细胞和 T 细胞、吞噬细胞和补体紊乱是最常见的类型。患有这些疾病的儿童往往会发生不常见的细菌或真菌感染，或常见病原体的异常严重和复发性感染。家族原发性免疫缺陷病史是该类疾病的最强预测因素。当怀疑存在免疫缺陷疾病时，初始实验室筛查应包括全血细胞计数（包括差异计数）和血清免疫球蛋白及补体水平的测定。全血细胞计数中淋巴细胞减少提示 T 细胞疾病，而中性粒细胞减少提示吞噬细胞疾病。血清免疫球蛋白水平异常提示 B 细胞疾病。经典或替代补体途径检测异常提示补体疾病。如果实验室结果异常，或者尽管实验室结果正常但临床怀疑仍然存在，儿童应转至进一步评估。还应考虑人类免疫缺陷病毒感染，并在适当情况下进行检测；这种感染在临床上常类似于 T 细胞疾病。
