We analyzed the cause of agammaglobulinemia in a girl whose father had been diagnosed as having X-linked agammaglobulinemia (XLA). Flow cytometric analysis revealed the lack of peripheral B cells with the block of B-cell differentiation in the stages between pro-B cells and pre-B cells in the bone marrow, and the defect of the Bruton tyrosine kinase (BTK) expression on monocytes. We found a BTK...

Primary immunodeficiencies (PIDs) encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA) has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS). This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a...

Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent inf...

BACKGROUND Much interest has been shown recently in the pathogenic role of B cells in rheumatoid arthritis (RA) owing to the marked clinical responses to anti-CD20 treatment in RA. CASE REPORT A patient with X linked agammaglobulinaemia (XLA) presented with an erosive symmetric polyarthritis with histological features of RA, including formation of a destructive pannus. Furthermore, the patien...

No clear genotype/phenotype correlations have been established in patients with X-linked agammaglobulinemia (XLA). To determine if the specific mutation in Btk might be one of the factors that influences the severity of disease or if polymorphic variants in Tec, a cytoplasmic tyrosine kinase that might substitute for Btk, could contribute to the clinical phenotype, we examined the age at diagno...

predominantly antibody deficiencies are a category of primary immunodeficiency diseases, which consist of several rare disorders such as common variable immunodeficiency (cvid) and x-linked agammaglobulinemia (xla). we evaluated the effects of cvid and xla patients’ sera as a source of microenviromental factors on maturation and function of monocyte-derived dcs. blood was collected from 10 cvid...

Shape optimization is of great significance in structural engineering, as an efficient geometry leads to better performance structures. However, the application gradient-based shape for form finding limited, which partly due difficulty and complexity gradient evaluation. In this work, framework based on automatic differentiation (AD), adjoint method accelerated linear algebra (XLA) proposed pro...