| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
Identification of new responsible genes and pathological analysis of patients who are difficult to diagnosis with primary immunodeficiency |
| Name of principal investigator |
Satoshi Okada |
| Name of institution of the principal investigator |
Hiroshima University Graduate School of Biomedical & Health Sciences |
| Target disease |
Primary immunodeficiency |
| Registry name |
Exome analysis data of patients with primary immunodeficiency |
| Purpose of registry |
Genetic analysis study
|
| Overview of registry |
This is a registry of integrated exome analysis data of patients who underwent exome sequence analysis for diagnosis of primary immunodeficiency. The Department of Pediatrics of Hiroshima University, Department of Pediatrics of National Defense Medical College, Department of Pediatrics of Tokyo Medical and Dental University, and Department of Pediatrics of Kyoto University participate in this project.
|
| Research item |
Sex, Date of birth, Family history, Past medical history, Complication, History of present illness, History of treatment, Laboratory data, Clinical course, Prognosis
|
| Contact |
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| E-mail address |
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| Registry URL |
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* If the E-mail address is shown, replace "●" with "@", please.
