Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry

Abstract

This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras, Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered, the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies. All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency diseases, more work on improving the registration of patients by each participating country and by countries that have not yet joined LAGID is still needed.

Calidad de vida de los pacientes con inmunodeficiencias primarias de anticuerpos

“…Esto aún no se logra en México debido principalmente a que los médicos de primer contacto frecuentemente no están familiarizados con las manifestaciones clínicas de estas enfermedades. 5 Cuando los enfermos con inmunodeficiencias primarias no se diagnostican y tratan oportunamente cursan con infecciones recurrentes o graves que pueden poner en peligro la función del o los órganos afectados y en ocasiones también la vida. 6 En México, al igual que en Latinoamérica y el resto del mundo, las inmunodeficiencias primarias con defecto predominante en la producción de anticuerpos son las que se diagnostican con mayor frecuencia.…”

“…6 En México, al igual que en Latinoamérica y el resto del mundo, las inmunodeficiencias primarias con defecto predominante en la producción de anticuerpos son las que se diagnostican con mayor frecuencia. 5 El tratamiento de estas enfermedades consiste en la administración periódica (de por vida) de inmunoglobulina G humana (IgG) con el objeto de mantener niveles séricos de IgG similares a los de una persona sana. [7][8][9][10][11] El hecho de que los pacientes con defectos en la producción de anticuerpos requieran recibir IgG cada tres o cuatro semanas obliga al paciente y sus familiares a desplazarse a un centro de atención médica donde pueda aplicarse el medicamento, con la consiguiente pérdida de días de escuela para los pacientes y de trabajo para los padres.…”

Primary Immunodeficiency Diseases in Latin America: Epidemiology and Perspectives

“…It is estimated that Brazil has 2,000 patients on treatment and approximately 20,000 patients with PID (Leiva et al, 2007). Immunological diagnosis is supported by numerous centers located in São Paulo, Minas Gerais, Paraná, Rio Grande do Sul, Bahia and Rio de Janeiro (Grumach et al, 1997;Leiva et al, 2007).…”

“…Immunological diagnosis is supported by numerous centers located in São Paulo, Minas Gerais, Paraná, Rio Grande do Sul, Bahia and Rio de Janeiro (Grumach et al, 1997;Leiva et al, 2007). Centers located in southeast of country have specialized researchers, structure and molecular diagnostics.…”

“…The most common form of PID was predominantly antibody deficiency (53,2%), other well-defined PID syndromes such ataxia telangiectasia, Hyper IgE and Di George (22,6%), Combined T-and B-cell Immunodeficiency (9,5%), phagocytic disorders (8,6%), diseases of immune dysregulation (3,3%) and complement deficiencies (2,8%). All countries that participated in the first publication in 1998 reported increase in PID register cases, ranging between 10 and 80% (Leiva et al, 2007). Mucocutaneous Candidiasis.…”