X linked agammaglobulinaemia with a 'leaky' phenotype.

A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.

The gene responsible for X linked agammaglobulinaemia (XLA) lies in Xq22 and has recently been identified as atk. DXS101 is a polymorphic locus which is closely linked to the disease locus. In this report we describe the identification, by pulsed field gel electrophoresis, of a new polymorphism at the DXS101 locus with a predicted heterozygosity of 4.9%. Despite this low value, we show how this...

X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.

AIM Primary immunodeficiencies (PID) are becoming a recognized public health problem worldwide. The most important subgroup of these disorders are the antibody deficiencies. X-linked agammaglobulinaemia was the first described entity of this group and is characterised by early onset of recurrent bacterial infections, profound deficiency of all immunoglobulin isotypes and markedly reduced number...

Isolation of the defective gene in X linked agammaglobulinaemia.

Colorectal cancer in patients with X-linked agammaglobulinaemia.

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 ...

Sustained virologic response following HCV eradication in two brothers with X-linked agammaglobulinaemia.

X-linked agammaglobulinaemia (XLA) is a humoral immunodeficiency syndrome characterized from childhood by the absence of circulating B lymphocytes, absent or reduced levels of serum immunoglobulin and recurrent bacterial infections. For many affected patients, regular treatment with immunoglobulin is life saving. Hepatitis C viral (HCV) infection acquired through contaminated blood products is ...