Pediatric Primary Immunodeficiency Disease (PID) in China

Capital Medical University

Status: Unknown

Conditions: Primary Immunodeficiency Disease

Study type: Observational

Funder types: Other

Identifiers

NCT03252548

BCHlung006

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 400 estimated patients

Sex: All

Ages: 1 day to 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Age: from neonates to 18 years old

2. Fulfilling the one of the followings:

   1. Severe infection after vaccination (BCG, polio arthritis pill)
   2. Chronic/recurrent ear infection, sinus infections and respiratory tract infection
   3. Recurrent, deep skin or deep-seated infections
   4. Boys with early period and refractory thrombocytopenia
   5. Infants with obviously decreased absolute number of lymphocytes
   6. Severe allergy with infection
   7. Infant diabetes with severe diarrhea
   8. Boys with severe Epstein-Barr virus infection
   9. Infants with hepatosplenomegaly and generalized lymphadenopathy
   10. Infantile hemophagocytic syndrome
   11. Failure of an infant to gain weight or grow normally
   12. Persistent thrush in mouth or fungalinfection on skin
   13. Family history of primary immunodeficiency
   14. Invasive pneumococcal infection
   15. Erythrodermic psoriasis

3. Gene test confirmed PID pediatric patients

Exclusion criteria

Subject will be excluded if she or he would not enroll into this study