background: primary immunodeficiency disorders (pid) are a group of hereditary disorders characterized by an increased susceptibility to severe and recurrent infections, autoimmunity, lymphoproliferative disorders, and malignancy. objective: to evaluate the demographic and clinical data of pid patients diagnosed in a referral pediatric hospital. method: all pid cases with a confirmed diagnosis,...

Adaptive immune mechanisms recognize and neutralize foreign molecules or microorganisms in a specific manner. Lymphocytes, B and T cells, can respond specifically to thousands of nonself materials. Adaptation is further acquired with memory of previous infections. Immunodeficiencies impair the functioning of the immune system. Deficiencies are highly variable with regard to symptoms, phenotype,...

METHODS. Computer literature searches were conducted for randomized clinical trials in medical literature databases including the US National Library of Medicine (Medline), the Excerpta Medica database (EMBASE), the Cochrane Library, the Database of Abstracts of Reviews of Effects (DARE) of the Centre for Reviews and Dissemination (University of York), and the Cumulative Index to Nursing and Al...

BACKGROUND Primary antibody deficiency, the most common primary immunodeficiency disorder, represents a heterogeneous spectrum of conditions caused by a defect in any critical stage of B cell development and is characterized by impaired production of normal amounts of antigen-specific antibodies. OBJECTIVE This retrospective study aimed at description and analysis of demographic, clinical, im...

Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the ...