Primary Immune Deficiencies – Principles of Care
Gaspar, Hubert Bobby
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CitationChapel, Helen, Johan Prevot, Hubert Bobby Gaspar, Teresa Español, Francisco A. Bonilla, Leire Solis, and Josina Drabwell. 2014. “Primary Immune Deficiencies – Principles of Care.” Frontiers in Immunology 5 (1): 627. doi:10.3389/fimmu.2014.00627. http://dx.doi.org/10.3389/fimmu.2014.00627.
AbstractPrimary immune deficiencies (PIDs) are a growing group of over 230 different disorders caused by ineffective, absent or an increasing number of gain of function mutations in immune components, mainly cells and proteins. Once recognized, these rare disorders are treatable and in some cases curable. Otherwise untreated PIDs are often chronic, serious, or even fatal. The diagnosis of PIDs can be difficult due to lack of awareness or facilities for diagnosis, and management of PIDs is complex. This document was prepared by a worldwide multi-disciplinary team of specialists; it aims to set out comprehensive principles of care for PIDs. These include the role of specialized centers, the importance of registries, the need for multinational research, the role of patient organizations, management and treatment options, the requirement for sustained access to all treatments including immunoglobulin therapies and hematopoietic stem cell transplantation, important considerations for developing countries and suggestions for implementation. A range of healthcare policies and services have to be put into place by government agencies and healthcare providers, to ensure that PID patients worldwide have access to appropriate and sustainable medical and support services.
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