关键词: 原发性免疫缺陷病, 儿童, 感染, 体征和症状, 预后

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