Abstract
Primary 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.
Highlights
WHY A PRINCIPLES OF CARE DOCUMENT/CALL TO ACTION Primary immune deficiencies (PIDs) are a large and growing group of over 230 different disorders, caused when some components of the immune system are defective
While PIDs are generally recognized as rare disorders, some are more common than others
Owing to defective immune systems, people with PIDs are more prone to infections
Summary
WHY A PRINCIPLES OF CARE DOCUMENT/CALL TO ACTION Primary immune deficiencies (PIDs) are a large and growing group of over 230 different disorders, caused when some components of the immune system (mainly cells and proteins) are defective. Effective national patient organizations provide advice, education, and support to patients and families and their healthcare providers too They have a pivotal role to play in ensuring that their community is kept informed and updated about latest developments in a wide range of areas including medical and scientific advances, political and regulatory decisions, supply and safety of life-saving treatments. EMERGENCY MEDICINE Primary immune deficiency patients may need emergency treatment, so every patient should have an individually tailored plan (medical diagnosis, specific therapy, expert center contact), outlining management of emergencies common to their immunodeficiency, and ensuring access to specialist medication. Emergency staff are unlikely to be familiar with management of immunodeficiency and the patient may be at-risk of delayed or inappropriate care; a 24-h contact number for specialist advice must be included in the patient’s plan This is important for patients with complement deficiencies in whom the correct emergency therapy undoubtedly saves lives.
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