Primary Immunodeficiency Diseases Registry at USIDNET
Purpose, Scope, and History:
The purpose and scope of this project is to assemble and maintain a registry of residents of the United States with primary immunodeficiency diseases. The project was started in 1992 with the "Registry of U.S. Residents with Chronic Granulomatous Disease". In 1997, this registry was incorporated into the current Registry that includes the following eight diseases:
- Chronic Granulomatous Disease - See Winkelstein, Marino, Johnston et al., " Chronic Granulomatous Disease: Report on a National Registry of 368 Patients ", Medicine, Vol. 79, No.3, May 2000, p.155-69.
- Common Variable Immunodeficiency Disease
- DiGeorge Anomaly
- Hyper IgM Syndrome - See Winkelstein, Marino, Ochs et al., " The X-linked Hyper-IgM Syndrome: Clinical and Immunologic Features of 79 Patients", Medicine, Vol. 82, No. 6, Nov. 2003, p.373-83.
- Leukocyte Adhesion Defect
- Severe Combined Immunodeficiency Disease
- Wiskott-Aldrich Syndrome
- X-Linked Agammaglobulinemia
The Registry is now a part of USIDNET. The Registry is currently being expanded to include over 30 different molecular genetic disorders.
Major Purposes:
- To provide a minimum estimate of the prevalence of each disorder in the United States.
- To provide a comprehensive clinical picture of each disorder.
- To provide a resource for clinical and laboratory research.
Contact and Access:
Physicians who would like to register their patients or access the registry are encouraged to contact Shannon Blotner, Registry Manager, at sblotner@primaryimmune.org or by calling 866-939-7568.