Pediatric Primary Immunodeficiency Disease (PID) in China

Study Overview
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Brief Summary
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This study is a prospective cohort study of children diagnosed with primary immunodeficiency disease (PID). The aim is to investigate the clinical characteristics and prognosis of PID in Chinese children.

Detailed Description
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Primary immunodeficiency disease (PID) is a group of rare and fatal disease. However, the research about clinical characteristics, treatment, management and prognosis of Chinese children with PID is still not perfect and there is no basic and large database. Therefore, this study is conducted, in order to set up a complete database and long term follow up of Chinese children with PID, and establish foundations for basic research and precise medicine. This study is divided into two parts. In part one, pediatric patients with PID in the past 10 years will be collected retrospectively by review medical records from these centers, and investigate the clinical features and prognosis. In part two, all new cases with suspected PID will be collected. Clinical symptoms, physical examination, blood tests, and humoral and cellular immune functions will be detected. Gene tests would be done when necessary to confirm the diagnosis. Then follow up at 6-moth, 1-year, 2-year, 3-year, 4-year and 5-year respectively. The trial will be completed in 60 months.

Official Title
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Clinical Characteristics and Prognosis of Primary Immunodeficiency Disease (PID) in Chinese Children

Conditions
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Primary Immunodeficiency Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Age: from neonates to 18 years old Fulfilling the one of the followings: Severe infection after vaccination (BCG, polio arthritis pill) Chronic/recurrent ear infection, sinus infections and respiratory tract infection Recurrent, deep skin or deep-seated infections Boys with early period and refractory thrombocytopenia Infants with obviously decreased absolute number of lymphocytes Severe allergy with infection Infant diabetes with severe diarrhea Boys with severe Epstein-Barr virus infection Infants with hepatosplenomegaly and generalized lymphadenopathy Infantile hemophagocytic syndrome Failure of an infant to gain weight or grow normally Persistent thrush in mouth or fungalinfection on skin Family history of primary immunodeficiency Invasive pneumococcal infection Erythrodermic psoriasis Gene test confirmed PID pediatric patients Exclusion Criteria: Subject will be excluded if she or he would not enroll into this study

Ages Eligible for Study
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Minimum Age: 1 Day
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequencies of severe infection of children with PID | Times of severe infection attack will be recorded every year from baseline to 60 months, assessed by questionnaire | 60 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Life quality of children with PID | Life Quality Questionnaire, once for every year | 60 months | 
| Complications of children with PID |  | 60 months | 
| Long-term changes on lung function of children with PID |  | 60 months |