Registro español de inmunodeficiencias primarias (REDIP)

Abstract

Two thousand and fifty cases (n = 2050) of primary immunodeficiencies (PID) were registered up to February 2001. The Spanish Register for Primary Immunodeficiencies (REDIP) began in 1993. PID nomenclature and diagnostic criteria were made according to the report of the World Health Organization Scientific Group (1999). The most frequent disorders were IgA deficiency (797 registers) and common variable immunodeficiency (CVI) (389), followed by severe combined immunodeficiency and predominantly T cell defects (268), complement deficiencies (207 registers), X-linked agammaglobulinemia (87), IgG subclass deficiency (71), chronic granulomatous disease (64). Gammaglobulin replacement was the therapy in 638 patients (76%) belonging to antibody deficient group. 61 bone marrow transplants were done, 46 severe combined immunodeficiencies, 6 phagocytic disorders and 1 unclassified. Important differences in the number of cases submitted from different country areas were found.

Autoimmunity in Primary Antibody Deficiencies

“…Mutations in Bruton tyrosine kinase (BTK) are the most common (85%) gene defect that cause early B-cell defects, while mutations in CD40L (70%) and TACI (transmembrane activator and CAML interactor; 10%) are the most common cause of class-switching defects and terminal B-cell defects, respectively [1]. According to the results of different PID registries in the world, selective IgA deficiencies (sIgAD) are the most common PADs, followed by common variable immunodeficiency (CVID) [18,19,20,21,22,23]. CVID is thought to be a genetically heterogeneous disorder; however, the exact cause of the disorder is unknown in the large majority of cases.…”