Disease Information for Agammaglobulinemia, x-linked, infantile

Also Bruton"s agammaglobulinemia; congenital agammaglobulinemia terms; Panhypogammaglobulinemia of male infants characterized by levels of igG <100 mgm/dl and other Ig levels low or absent, low or absent B cells, intact cellular immunity, nd onset of infections sometime after age 6 months, when maternal antibodes disappear.

[merck manual 17th ed]--------------------------

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 high-grade 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; In contrast to patients with defective cellular immunity, growth retardation is uncommon as are fungal or other opportunistic infections;

Patients with X-linked agammaglobulinemia typically possess very low serum concentrations of g-globulin (less than 100 mg/dl) and very low to undetectable concentrations of immunoglobulin in secretions; Analysis of peripheral blood typically reveals normal concentrations of total lymphocytes but very low numbers of B lymphocytes. While pre-B lymphoid series cells can be identified in the bone marrow of these patients, biopsies of lymphoid tissues reveal hypoplasia, the absence of germinal centers, and markedly diminished numbers of plasma cells; Patients with X-linked agammaglobulinemia are supported by assiduous attention to signs of infection, antibiotics, and immunoglobulin replacement therapy; The major long-term problem in patients who avoid complications like chronic viral CNS infections is the development of chronic and recurrent respiratory tract infections, which can lead to the development of bronchiectasis and pulmonary insufficiency;

[Clinical Laboratory Medicine, Kenneth D. McClatchey. Text (c) 1994 Williams and Wilkins]

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