Our findings indicate a need for prolonged culture on specific agar on all joint fluids in patients with agammaglobulinemia
and targeted molecular methods to identify S.
Sanal et al., "Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia
," Human Mutation, vol.
(XLA) / hypogammaglobulinemia, also known as Bruton's agammaglobulinemia
is a prototype of humoral immunodeficiency first described by Bruton in 1952.1 It is an uncommon congenital disease and is the major primary immunodeficiency recognised in childhood.
involves gastrointestinal tract like chronic-atrophic gastritis, giardiasis, sprue-like disorder with atrophied villi, inflammatory bowel disease, nonspecific intestinal malabsorption, nodular lymphoid hyperplasia, and pernicious anaemia [8, 9].
. About these things we have heard called,
In 2 cases in which we could not find any systemic etiologic reason, we detected immunoglobulin deficiency (1 selective immunoglobulin A deficiency, 1 Bruton's agammaglobulinemia
Paul, "Colocalization of X-linked agammaglobulinemia
and X-linked immunodeficiency genes," Science, vol.
, congenital, acquired and transient forms.
Previously, scientists have always thought that BTK is important primarily in antibody production due to observations made of an inherited genetic disorder in humans called X-linked Agammaglobulinemia
Patients with CVID show hypo gammaglobulinaemia in the presence of normal or nearnormal B cell counts which has been named agammaglobulinemia
with B cells.
This was the first documented case of agammaglobulinemia
, one of the more common types of PIs.
Although T1DM can occur in humans in the absence of B lymphocytes on a congenital (70) or an acquired basis (71, 72), btk-deficient NOD mice that are antibody deficient are protected from T1DM (73).In humans, btk is the tyrosine kinase that is deficient in Bruton's X-linked recessive agammaglobulinemia
. Furthermore, NOD mice that are B-lymphocyte depleted by use of an anti-CD20 monoclonal antibody do not develop T1DM (74).