X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK). Deficiency of BTK leads to a developmental block in B cell differentiation; hence, the patients essentially lack antibody-producing plasma cells and are susceptible to various infections. A substantial portion of the mutations in BTK results in splic...

Deficiencies of Bruton's tyrosine kinase (Btk) have been implicated in the pathogenesis of human X-linked agammaglobulinemia (XLA). The distinctive phenotype observed in B-cell deficiency indicates the crucial role of Btk in B-cell development. This report describes a nationwide study of Btk deficiency in Japan, covering 51 XLA patients (35 independent families). Along with the identification o...

X-linked agammaglobulinemia (XLA) or Bruton’s disease is a rare genetic disorder, discovered in 1952, that mitigates the immune response to infections1. Early studies have associated mutations in the Bruton tyrosine kinase (BTK) gene (GDB 120542) with XLA development2,3. The BTK gene, spanning 37.5 kilobases (kb) with 19 exons, is located on the X chromosome at Xq21.3–Xq22 and encodes Bruton ag...

Controversy exists in the literature concerning the potentiating effect of heparin on the inactivation rate of factor Xla by antithrombin Ill (AT Ill) in both purified systems and in plasma. We have analyzed the factors that could influence this reaction and found that ionic strength of the medium, as well as the type and concentration of the heparin preparations accounted for the major discrep...

Mutations of the Bruton's tyrosine kinase (Btk) gene cause X linked agammaglobulinaemia (XLA). This inherited immunodeficiency disease causes an arrest in B cell differentiation of pre-B cells to mature B cells. In this study we report the characterisation of mutations in the Btk gene in 10 unrelated XLA families. The screening approach we used was based on reverse transcriptase PCR and direct ...

conclusions according to the results of these work-ups, xla was diagnosed for the cases. introduction x-linked agammaglobulinemia (xla) is one of the primary humoral immunodeficiencies. it usually presents symptoms of recurrent infections, but in some unusual cases it may present rheumatologic manifestations. case presentation the current paper presents the cases of two boys with arthritis trea...

Introduction: X-linked agammaglobulinemia (XLA) is a rare primary humoral immunodeficiency caused by mutation of Bruton tyrosine kinase (BTK), featuring early onset and repeated bacterial infections. Arthritis is an intriguing presentation because despite the constant threat of infection, inflammatory and rheumatic arthritis occur in rare cases, suggesting that unregulated autoimmunity can aris...

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...

Toll-like receptors (TLRs) are a primary surveillance system for the detectionof pathogens and are crucial to the activationof host defense. TLR7 and TLR8 sense single-stranded RNA from viruses or host ribonucleoproteins and synthetic imidazoquinolines such as R848, whereas TLR9 senses unmethylated CpG motifs in viral and bacterial DNA and in host DNA. Here we report the endogenous interaction ...

BACKGROUND X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. To our knowledge, this is the first report of XLA from Viet...