A higher incidence of malignancy as well as greater susceptibility to infection has been found to be associated with primary immunodeficiencies. An increased incidence of leukemia has been associated with X-linked infantile agammaglobulinemia-an isolated defect of humoral immunities. An increased frequency of a wide variety of malignancies have been found to accompany several different forms of...

Seven boys with diagnosis of X-linked agammaglobulinemia on regular substitution of immunoglobulins were included into study. The patients showed episodes of infections but the clinical course was mild with good response to antibiotics. All patients developed, with time, the chronic sinusitis with proliferation of mucous membrane, two patients showed bronchiectases. The number of T lymphocytes,...

X-linked agammaglobulinemia (XLA) or Bruton’s disease is a rare inherited disorder of the immune system: XLA is a primary immunodeficiency, occurring in 1 of 190,000 male births in the United States [1,2]. XLA represents nearly 85% of agammaglobulinemia cases, and is caused by a defect in gene, located on the X chromosome, coding for Bruton’s tyrosine kinase (BTK). BTK gene mutation causes a fa...

X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship betwee...

BACKGROUND Patients with X-linked agammaglobulinemia (XLA) develop immune-complex induced diseases such as nephropathy only rarely, presumably because their immunoglobulin (Ig) G concentration is low. We encountered a patient with XLA who developed tubulointerstitial nephritis during treatment with intravenous immunoglobulin (IVIG). CASE PRESENTATION A 20-year-old man was diagnosed with XLA 3...

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...

To gain insight into a possible role for antibody-dependent cell-mediated cytotoxicity in vivo, we examined the ability of leukocytes from 28 patients with primary immunodeficiency and from 20 normal controls to lyse three different types of antibody-coated targets in vitro. Mean cytotoxic indices +/-1 SD elicited by unfractionated mononuclear cells from normal controls were 28.74+/-13.26 for h...