Abstract: Objective　To investigate clinical characteristics and prognosis of children with primary immunodeficiency diseases （PID）．Methods　The clinical data of 37 inpatients who were diagnosed with PID because of recurrent respiratory tract infection admitted to the Department of Immunology of Affiliated Children's Hospital of Xi'an Jiaotong University from June 2013 to February 2017，was retrospectively collected and analyzed.Among all patients，there were 17 cases with X-linked agammaglobulinaemia （XLA），4 cases with chronic granulomatous disease （CGD），4 cases with X-linked hyper-immunoglobulin M （XHIM），4 cases with Wiskott-Aldrich syndrome （WAS），3 cases with selective immunoglobulin A deficiency （sIgAD），2 cases with severe combination of immunodeficiency disease （SCID），2 cases with suspected neutrophil dysfunction and 1 case with DiGeorge syndrome （DGS）．Their baseline information，clinical manifestations，laboratory data，test results of gene and prognosis were respectively analyzed.Results　Thirty-five out of 37 patients with sIgAD were male.The age of patients ranged form 54 days to 10 years and 9 months.The age from onset to diagnosis were from 6 months to 8 years.Four cases had suspicious family history.Among 37 children with PID，24（64.9%） had antibody deficiency，6（16.2%） had phagocyte count and function deficiency，5（13.5%） had definite syndrome and 2（5.4%） had combined immunodeficiency.All patients had history of recurrent infections，and the most common sites were respiratory tract and digestive tract.The levels of immunoglobulin G （IgG），IgA，IgM，T lymphocyte count and B lymphocyte count decreased in most children.All 37 cases were diagnosed by gene test except 3 cases of sIgAD，1 case of SCID and 2 cases of suspected neurophil dysfunction.After 1 to 5 years of follow-up，one child with XLA underwent repeated blood routine examinations whose red blood cells，white blood cells and platelets decreased，which showed signs of ecchymosis and epistaxis on both lower limbs.Bone marrow puncture was recommended，but we lost contact with the patient after family members refused to do so.One child with SCID died of severe infection，and one child with XHIM lost follow-up after stem cell transplantation.All the other children survived.Conclusion　We should pay more attention to children who had recurrent infections，particularly those with severe infections who need intravenous antibiotics every time.We also need to consider the possibility of having PID by performing preliminary lymphocyte and humoral immune function screening.Early diagnosis and treatment plays an important role in improving patients' prognosis and life quality.

Key words: Primary immunodeficiency disease, Child, Infection, Signs and symptoms, Prognosis

摘要： 目的　探讨儿童原发性免疫缺陷病（PID）的临床特点及预后。方法　选取2013年6月—2017年2月西安交通大学医学院附属儿童医院因反复感染入院PID患儿37例，其中临床诊断X连锁无丙种球蛋白血症（XLA）17例、慢性肉芽肿病（CGD）4例、X连锁高免疫球蛋白M综合征（XHIM）4例、湿疹血小板减少伴免疫缺陷综合征（WAS）4例、选择性免疫球蛋白A缺乏症（sIgAD）3例、联合免疫缺陷病（SCID）2例、可疑中性粒细胞功能缺陷2例、先天性胸腺发育不全（DGS）1例。分析患儿的基本资料、主要临床表现、实验室检查、基因检查结果及预后。结果　37例PID患儿中2例sIgAD为女性，其余35例均为男性，年龄54 d~10岁9个月，发病至确诊时间6个月~8年。4例有可疑家族史。37例PID患儿中抗体缺陷24例（64.9%），吞噬细胞数目、功能缺陷6例（16.2%），有明确综合征5例（13.5%），联合免疫缺陷病2例（5.4%）。患儿均有反复感染病史，感染部位主要为呼吸道、消化道。多数患儿有体液免疫免疫球蛋白（IgG）、IgA、IgM含量降低，T、B淋巴细胞计数降低。37例患儿除3例sIgAD、1例SCID及2例可疑中性粒细胞功能缺陷患儿外，其余均为经过基因检测确诊。随访1~5年，1例XLA患儿后期反复查血常规三系均降低，双下肢可见瘀斑及鼻衄表现，建议行骨髓穿刺，家属拒绝后失联；1例SCID患儿因重症感染死亡；1例XHIM患儿进行干细胞移植后失访。其余患儿均存活。结论　对于反复感染，尤其是重症感染，每次均需静脉用抗生素治疗的患儿，应需警惕PID的可能，并尽早进行淋巴细胞及体液免疫功能的初步筛查，以便于早期诊断、早期干预，提高生活质量，改善预后。

关键词: 原发性免疫缺陷病, 儿童, 感染, 体征和症状, 预后