Search results
Results from the WOW.Com Content Network
Agammaglobulinemia (XLA) is similar to the primary immunodeficiency disorder Hypogammaglobulinemia , and their clinical conditions and treatment are almost identical. However, while XLA is a congenital disorder, with known genetic causes, CVID may occur in adulthood and its causes are not yet understood.
Bruton's tyrosine kinase is named for Ogden Bruton, who first described XLA in 1952. [10] [40] Later studies in 1993 and 1994 reported the discovery of BTK (initially termed B cell progenitor kinase or BPK) and found that BTK levels are reduced in B cells from XLA patients. [41] [42] [43]
This type of agammaglobulinemia is now called Bruton's syndrome or X-linked agammaglobulinemia, which was later found by others to be an X-linked congenital condition. The gene defect has since been mapped to the gene code for Bruton's tyrosine kinase (Btk), at band Xq21.3. [3] [6]
Absent B cells with a resultant severe reduction of all types of antibody: X-linked agammaglobulinemia (btk deficiency, or Bruton's agammaglobulinemia), μ-Heavy chain deficiency, l 5 deficiency, Igα deficiency, BLNK deficiency, thymoma with immunodeficiency
X-linked agammaglobulinemia was one of the first described primary immunodeficiencies, discovered by Ogden Bruton in 1952. [4] [20] Primary immunodeficiencies were initially classified in 1970 by a committee of the World Health Organization. At the time, they identified 16 immunodeficiencies. By 1998, the number had reached 50. [21]
Brutton's agammaglobulinemia is an X-linked recessive disorder characterized by recurrent infections in the early-post natal period attributable to failure of pre-B cells to mature. Unless treated with Intravenous Immunoglobulins, patients often die.
Nemtabrutinib (MK-1026, formerly ARQ 531) is a small molecule drug that works as a reversible Bruton's tyrosine kinase (BTK) inhibitor; unlike other BTK inhibitors it also works against some mutated forms of BTK.
X-linked agammaglobulinemia (XLA; also known as Bruton type agammaglobulinemia): characterized by a deficiency in tyrosine kinase enzyme that blocks B cell maturation in the bone marrow. No B cells are produced to circulation and thus, there are no immunoglobulin classes, although there tends to be a normal cell-mediated immunity.