Primary Immunodeficiency Diseases

Abstract

Primary immunodeficiencies are rare, but important for 3 reasons. First, a high index of suspicion and prompt diagnosis can lead to lifesaving treatment or significant improvement in quality of life. Second, appreciation of the genetic nature of a host defense defect makes possible family counseling and carrier and prenatal diagnosis. Finally, the large and growing list of human genetic defects in immune pathways provides an important tool for understanding human immunoregulation. Many inherited immunodeficiency diseases have had their genetic cause proven with the discovery of their disease genes within the past 5 years. These diseases provide a framework into which additional diseases and disease gene discoveries can be added as the rapid progress in molecular immunology and genetics continues.

Measuring treatment satisfaction in patients with primary immunodeficiency diseases receiving lifelong immunoglobulin replacement therapy

“…Primary immunodeficiencies are more common than often thought and a wide range of such diseases has been described [1,3]. The patient population included in this study encompassed individuals with the most common forms of primary immunodeficiencies.…”

“…Examples are selective IgA deficiency, common variable immunodeficiency, X-linked agammaglobulinemia, IgG subclass deficiencies and specific antibody deficiencies [1,2]. The impaired host defense in these patients leads to an increased susceptibility to infections of unusual duration and to recurrences [3].…”

Gastrointestinal manifestations of non-AIDS immunodeficiency

“…The serum of up to 44% of patients with selective IgA deficiency contains antibodies to IgA, placing them at risk for such reactions [22].…”

Dendritic cells and lymphocyte subpopulations of the adenoid in the pathogenesis of otitis media with effusion

“…Our research and data from the literature allow to state that persistent stimulation with antigens of potentially pathogenic bacteria of adenoids may result in immune cells depletion [22]. The observed immunological deficiency may be the consecution of ineffective antibiotic therapy to recurrent infections [23][24][25]. The studies of Shevach and Chaperon indicate quantitative reduction and functional impairment of T-cells population as a result of usage of most antibiotics [26,27].…”