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X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection. As the form of agammaglobulinemia that is X-linked , it is much more common in males.
X-linked ichthyosis, a form of ichthyosis caused by a hereditary deficiency of the steroid sulfatase (STS) enzyme. It is fairly rare, affecting one in 2,000 to one in 6,000 males. [12] X-linked agammaglobulinemia (XLA), which affects the body's ability to fight infection.
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder that impairs the body’s ability to produce antibodies, which are proteins protecting us from disease-causing antigens, resulting in severe bacterial infections.
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]
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.
1 in 50,000 to 100,000 (X-linked form) Severe combined immunodeficiency ( SCID ), also known as Swiss-type agammaglobulinemia , is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. [ 2 ]
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Mutations in the BTK gene are implicated in the primary immunodeficiency disease X-linked agammaglobulinemia (Bruton's agammaglobulinemia); sometimes abbreviated to XLA and selective IgM deficiency. [9] Patients with XLA have normal pre-B cell populations in their bone marrow but these cells fail to mature and enter the circulation.