Primary immunodeficiencies in Switzerland: First report of the national registry in adults and children

Abstract

This first report of a Swiss registry includes 313 patients with primary immunodeficiency syndromes (PIDS) who were observed between January 1975 and January 1985. Diagnosis of specific PIDS was made according to WHO criteria. The most frequent disorders were IgA deficiency (33%) and common variable immunodeficiency (22%), followed by selective deficiency of other immunoglobulin isotypes (9%), severe combined immunodeficiency (9%), infantile sex-linked agammaglobulinemia (7%), and Wiskott-Aldrich syndrome (6%). Frequencies of other types of PIDS varied between 0.3 and 4%. Half of the patients were in the pediatric age group. Male patients predominated (63%). In addition to respiratory and urogenital tract infections, autoimmune disorders were observed in 14 patients with IgA deficiency or common variable immunodeficiency. IgA deficiency was, furthermore, associated with atopic and neurological disorders. A comparison with other national registries revealed some differences: the frequency of severe combined immunodeficiency was high (incidence, 24.3 cases per 10(6) live births), and that of ataxia teleangiectasia was particularly low (1.4 per 10(6) live births) in Switzerland. Frequencies of the three major PIDS groups of (i) predominantly antibody defects, (ii) predominantly cell-mediated defects, and (iii) PIDS associated with other major defects agreed with those reported in the other European studies.

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency

“…The condition is rare, with a reported incidence ranging from 0.22 to 0.68 per 100 000 live births. [5][6][7][8] There remains a significant unmet need for treatment options that improve long-term survival. Hematopoietic stem cell transplantation (SCT) from an allogeneic human leukocyte antigen (HLA)-compatible sibling donor is the preferred treatment.…”

Role of Antibodies in Controlling Viral Disease: Lessons from Experiments of Nature and Gene Knockouts

“…therapy may appear to be of little general importance. However, if the number of individuals affected by XLA (0.5 to 1 per million [4,29,41,65]) and CVID (about 0.5 to 1 per 100,000 [4,29,41,65]) is taken into account, it is safe to state that the incidence of severe viral manifestations, such as encephalitis, was considerably higher in these patients than in the general population, even when enterovirus infections are excluded. For instance, in the years of i.m.…”

Allergic and autoimmune disorders in families with selective IgA deficiency

“…Autoimmune disorders occur more frequently in patients with sIgAD, with an estimated prevalence of 7%-36% compared to 3%-5% in the general population (8)(9)(10)(11). The most common autoimmune conditions that have been reported in association with sIgAD are idiopathic thrombocytopenic purpura, hemolytic anemia, juvenile rheumatoid arthritis, thyroiditis, celiac disease, and type 1 diabetes mellitus (T1DM) (1,12,13).…”