In the recent past, the gene therapy field has witnessed a remarkable series of successes, many of which have involved primary immunodeficiency diseases, such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic granulomatous disease, and Wiskott-Aldrich syndrome. While such progress has widened the choice of therapeutic options in some specific cases of primary...

Skin fibroblasts were cultured from 15 patients with primary immunodeficiency diseases associated with a high cancer risk, including sex-linked agammaglobulinemia, IgA deficiency, variable immunodeficiency, ataxia-telangiectasia (cerebellar malfunction and abnormalities of blood vessels and immune response), Wiskott-Aldrich syndrome (low platelet count, eczema, and abnormal immune mechanism), a...

INTRODUCTION Primary immunodeficiencies comprise diseases that impair the immune system. Clinical manifestations are characterized by recurrent respiratory infections, which may be complicated by bronchiectasis, peribronchial thickening, abscesses, bullae, and pulmonary fibrosis. The aim of this study was to determine pulmonary complications in pediatric primary immunodeficiency by type. RESULT...

Background: Hyper-Immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency in which defective B-cell isotype switching results in a phenotype characterized by elevated or normal serum IgM levels and low levels of other Ig classes, leading to an increased susceptibility to infection, neutropenia, autoimmune disorders, and malignancies. In this disease, a mutation occurs in the C...

BACKGROUND Immunodeficiency is a heterogenous group of diseases affecting different components of the immune system. Patterns of infection, etiology and organ involvement are not similar in this risky population. This study was conducted to determine the prevalence of congenital and acquiring immunodeficiencies and also recognizing the most common infections and affected organs. MATERIALS AND...