Disease Information for Agammaglobulinemia, congenital/autosomal

Primary Agammaglobulinemias are a group of inherited immune deficiencies characterized by insufficient antibodies; Antibodies are composed of certain proteins (immunoglobulins) that are essential to the immune system. They are produced by specialized cells (ie, B lymphocytes) that circulate in the lymphatic fluid and blood; Antibodies fight off bacteria, viruses, and other foreign substances that threaten the body; Agammaglobulinemias are also characterized by the abnormal function of specialized white blood cells called B lymphocytes; The B lymphocytes are supposed to search out and identify bacteria, viruses, or other foreign substances in the body; T lymphocytes, also known as the "killer cells," assist B lymphocytes to respond to infection and other antigens; However, in some forms of Primary Agammaglobulinemias, neither the B nor the T lymphocytes function normally; There are three types of Primary Agammaglobulinemias: X-linked Agammaglobulinemia (XLA), X-linked Agammaglobulinemia with growth hormone deficiency, and autosomal recessive Agammaglobulinemia; All of these disorders are characterized by a weakened immune system treated with gamma globulin injections---------

[NORD 2005]--------------------------

Males with X-linked agammaglobulinemia are usually well until 6 to 9 months of age, the time by which maternal antibodies acquired in utero have been largely catabolized; These patients typically suffer from recurrent respiratory tract, joint, central nervous system, and systemic infections with encapsulated pyogenic bacteria; The spectrum of infections is broad, including pneumonia, sinusitis, otitis, meningitis, and sepsis; The most common bacterial isolates include Streptococcus pneumoniae, Haemophilus influenzae, and Streptococcus sp; Patients are particularly susceptible to viral hepatitis, and a number of patients have developed paralysis after exposure to live attenuated polio vaccine; A significant number of X-linked agammaglobulinemia patients have also died as the result of chronic echovirus infections of the central nervous system; This disorder is typically accompanied by a dermatomyositis-like syndrome; A small percentage of patients with X-linked agammaglobulinemia develop neutropenia, which may be transient, cyclic, or persistent; Pneumocystis carinii pneumonia has been reported in neutropenic agammaglobulinemic patients

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