Granulomatous Disease, Chronic
Conditions
Brief summary
CGD is a rare inherited primary immunodeficiency which is caused by the defect in one of the subunits of NADPH oxidase complex.We tend to collect and analyze Chinese CGD patients who are diagnosed in hospitals affiliated to Shanghai Jiao Tong University School of Medicine, including clinical feature, laboratory data and genetic information. we aim to find out clinical, distribution, genetic characteristic of CGD in Chinese population, etc., thus further improving the level of diagnosis and treatment for CGD.
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
* x-linked and AR-linked Chronic Granulomatous Disease * history of life-threatening severe infections * A functional assay demonstrating abnormal NADPH oxidase function or clinical history consistent with CGD
Exclusion criteria
* Presence of other primary immunodeficiency syndromes that do not meet the clinical and laboratory criteria for CGD.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| times of pneumonia | 2 years |
Countries
China