title: Primary immune deficiencies - principles of care.
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.
authors.affiliation: University of Oxford , Oxford , UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Chapel
authors.affiliation: International Patient Organisation for Primary Immunodeficiencies (IPOPI) , Downderry , UK.
authors.forename: Johan
authors.initials: J
authors.lastname: Prevot
authors.affiliation: University College London Institute of Child Health , London , UK.
authors.forename: Hubert Bobby
authors.initials: HB
authors.lastname: Gaspar
authors.affiliation: Hospital General Vall d'Hebron , Barcelona , Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Español
authors.affiliation: Boston Children's Hospital, Harvard Medical School , Boston, MA , USA.
authors.forename: Francisco A
authors.initials: FA
authors.lastname: Bonilla
authors.affiliation: International Patient Organisation for Primary Immunodeficiencies (IPOPI) , Downderry , UK.
authors.forename: Leire
authors.initials: L
authors.lastname: Solis
authors.affiliation: International Patient Organisation for Primary Immunodeficiencies (IPOPI) , Downderry , UK.
authors.forename: Josina
authors.initials: J
authors.lastname: Drabwell
keywords: awareness; diagnosis; management; primary immunodeficiencies; treatments; worldwide