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Primary immunodeficiency diseases: the J Project

Many resources continue to evolve for the modern clinical immunologist taking care of patients with primary immunodeficiency diseases, and also for those researching these rare diseases. Resources include websites, professional and patient organizations, interactive search tools, databases, and list serves. This chapter offers an overview of many of the resources available today. The chapter is divided into sections covering professional organizations, registries, clinical/diagnostic tools (including the rapidly evolving genetic testing/interpretation category), research, and advocacy/patient organizations. Many of the websites share links with each other, and point to other important and useful resources not covered in detail here.

Candida species are major causes of invasive and mucocutaneous infections. Invasive candidiasis may involve any internal organ or anatomic site, and is a significant cause of morbidity and mortality in immunocompromised individuals. Candida may also cause a broad range of mucocutaneous infections. Although healthy individuals carry Candida on body surfaces, only a few suffer from overt mucocutaneous candidiasis (MC) characterized by local signs of infection and visible, creamy-white curd-like patches on mucosal surfaces. Various recognition pathways and effector mechanisms are involved in triggering innate and adaptive host immune responses to Candida. Primary immunodeficiency disorders (PIDs) affecting the phagocytic cells predispose patients to invasive candidiasis. PIDs characterized by an impairment of IL-17 T cell-mediated immunity confer predisposition to MC, with Candida albicans in particular. We describe here clinical features of MC and discuss inborn errors of immunity leading to impaired IL-17-mediated defense and chronic MC.

There are many resources emerging for the modern clinical immunologist taking care of patients with primary immunodeficiency diseases, and also for those researching these rare diseases. Resources include websites, professional and patient organizations, interactive search tools, databases, and list serves. This chapter offers an overview of many of the resources available today. The chapter is divided into sections covering professional organizations, registries, clinical/diagnostic tools, research, and advocacy/patient organizations. Many of the websites now share links with each other, and point to other important and useful resources not covered in detail here.

More than 200 primary immune deficiencies have been described. In adults, their identification can be difficult. The lack of timely referrals, diagnostic facilities, and available expertise often delay appropriate treatment. Because an increasing number of adults are now diagnosed with immune deficiencies, there is a need to better understand the immune deficits in this age group. The study objective was to analyze the diagnostic spectrum of adults with primary immune deficiency and to determine the presumptive diagnostic accuracy of the referring physicians.

We conducted a retrospective chart review over a 10-year period of all individuals referred to a dedicated center for adults with primary immune deficiency. Suspected cases were confirmed using standard clinical criteria and state of the art immune assays.

Of the 381 individuals studied, 244 were diagnosed as immune deficient. Of these, 210 had primary immune deficiency classified as novel, defined, and undefined. Forty-three patients had a prior diagnosis and were referred for follow-up care, and 201 patients were newly diagnosed. Most patients had common variable immune deficiency. Despite an apparent high index of suspicion in initiating the referrals, only one third of these patients had a prior quantitative assessment of serum immunoglobulins.

In this first known analysis of a large cohort of adults with suspected immune deficiency using established diagnostic criteria, we confirmed the diagnosis in two thirds of all patients. Our findings highlight the wide spectrum of primary immune deficiency states seen in adult medical practices and the need for increased awareness of their existence.

Primary immunodeficiency diseases (PIDD) are associated with significant morbidity and mortality and result in a significant public health burden. This is in part due to the lack of appropriate diagnosis and treatment of these patients. It is critical that governments become aware of this problem and provide necessary resources to reduce this impact on health care systems. Leading physicians in their respective countries must be supported by their own governments in order to implement tools and provide education and thus improve the diagnosis and treatment of PIDD. The Latin American Society of Primary Immunodeficiencies (LASID) has initiated a large number of activities aimed at achieving these goals, including the establishment of a PIDD registry, development of educational programmes and guidelines, and the introduction of a PIDD fellowship programme. These initiatives are positively impacting the identification and appropriate treatment of patients with PIDD in Latin America. Nevertheless, much remains to be done to ensure that every person with PIDD receives proper therapy.

Early diagnosis and appropriate therapy are essential for the best prognosis and quality of life in patients with primary immunodeficiency diseases (PIDDs). Experts from several Latin American countries have been meeting on a regular basis as part of an ongoing effort to improve the diagnosis and treatment of PIDD in this region. Three programmes are in development that will expand education and training and improve access to testing facilities throughout Latin America. These programmes are: an educational outreach programme (The L-Project); an immunology fellowship programme; and the establishment of a laboratory network to expand access to testing facilities. This report provides the status of these programmes based on the most recent discussions and describes the next steps toward full implementation of these programmes.