X-linked Agammaglobulinemia (XLA) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced B lymphocytes number. In order to determine the association of neutropenia among Iranian patients with XLA, hospital records of 30 patients with confirmed XLA in Children Medical Center Hospital, were reviewed. Eight ou...

Typical X linked agammaglobulinaemia (XLA) is characterised by absence of immunoglobulin production and lack of mature B cells. The gene responsible for XLA has recently been identified, and codes for a B cell tyrosine kinase, BTK. A family affected by a B cell immunodeficiency, which is less severe than classical XLA, is described but they had a pedigree suggestive of X linked inheritance. Dem...

BACKGROUND X-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton's tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature B cells, and an increased susceptibility to recurrent bacterial infections. However, the diagnosi...

PURPOSE X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene resulting in defective B cell differentiation. Because it is a relatively rare disorder, it is difficult for clinicians to have a comprehensive understanding of XLA due to a lack of exposure to the disease. Clinical presentations of patients with XLA were...

INTRODUCTION Respiratory tract infections constitute the most frequent manifestation of X-linked agammaglobulinemia (XLA). There are not many papers elucidating gastrointestinal (GI) disorders, including inflammatory bowel disease (IBD), in such patients. The aim of the study was to evaluate the occurrence of gastrointestinal disorders and IBD compared to respiratory tract infections in XLA ind...

Patients with primary immunodeficiency are at an increased risk of cancer. Our case and literature review indicate an association between X-linked agammaglobulinemia and gastrointestinal malignancy and suggest that screening for gastrointestinal malignancy should occur for patients with X-linked agammaglobulinemia and gastrointestinal symptoms, unexplained anemia, or atrophic gastritis. X-linke...

Introduction. Coincidence of X-linked agammaglobulinemia (XLA) and secondary hemophagocytic syndrome (sHS) is atypical. Both diseases are rare and pathogenesis of the latter one is not clearly known. Case Presentation. A 5-year-old boy was diagnosed both with XLA and sHS. However, in his history, he did not have severe and recurrent infections. Bruton tyrosine kinase (BTK) gene mutation was pre...

Primary immunodeficiency disorders can predispose to certain malignancies but hitherto no such relation has been established for X-linked agammaglobulinaemia (XLA). We have diagnosed rapidly progressive colorectal cancer in 3 unrelated young adults with XLA. We could find no explanation for the tumours. Since the calculated incidence of rectosigmoid cancer is increased 30-fold in patients with ...

BACKGROUND Common variable immune deficiency (CVID), one of the most common primary immunodeficiency diseases presents in adults, whereas X-linked agammaglobulinemia (XLA), an inherited humoral immunodeficiency, is usually diagnosed early in life after maternal Igs have waned. However, there have been several reports in the world literature in which individuals have either had a delay in onset ...

Background: The B-cell defect in X-linked agammaglobulinemia (XLA) is caused by mutations in the gene for Bruton's tyrosine kinase (BTK). BTK mutations result in deficient expression of BTK protein in peripheral blood monocytes. Methods: Using the anti-BTK monoclonal antibody (48-2H), a flow cytometric analysis of intra cytoplasmic BTK protein expression in monocytes was performed to identify I...