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Revista Cubana de Reumatología

versión On-line ISSN 1817-5996

Resumen

ALONSO VALLE, Amanda; CANDELARIA GOMEZ, Belkys  y  VALDES LANZA, Liana. Primary immunodeficiencies: a challenge for immuno-genetics. Rev Cuba Reumatol [online]. 2020, vol.22, n.2, e828.  Epub 01-Ago-2020. ISSN 1817-5996.

Primary immunodeficiencies constitute a group of more than 300 frequently serious and often fatal diseases that reflect a quantitative and / or qualitative deficit in one or more components of the immune system. They are the result of inherited genetic defects that usually affect 1 in 8,000 to 10,000 live births. The clinical manifestations are usually very varied, because they mostly have a wide genetic heterogeneity, they can be caused by infections (common recurring, common serious, or rare and serious), inflammation, autoimmunity, malignancy, or allergy. Given that medical professionals of various specialties find it difficult to identify when they are in the presence of an primary immunodeficiency, it is proposed as an objective: to describe the clinical, epidemiological, immunological and genetic characteristics of Primary immunodeficiency. For the literature review, 27 bibliographic references were used.

Palabras clave : primary immunodeficiency’s; immune system; immune response.

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