X-linked agammaglobulinemia: an analysis of 96 patients

Medicine (Baltimore). 1985 May;64(3):145-56.


We have defined the clinical presentation and course of X-linked agammaglobulinemia (X-LA) by means of a multi-center retrospective survey of 96 patients. Infections were the most common presenting feature of patients with X-LA. The most frequent infections involved the upper respiratory tract (75%), lower respiratory tract (65%), gastrointestinal tract (35%), skin (28%), and central nervous system (16%). Clinical clues to the diagnosis of X-LA were the chronic or recurrent nature of infections, a family history of immunodeficiency, and infections at more than one anatomic location. Infections remained a significant problem after the diagnosis of X-LA was made and gamma-globulin prophylaxis had been instituted. One or more chronic infectious diseases occurred in 71% of patients. The respiratory tract was the most common site of disease, and the gastrointestinal tract was relatively spared. Patients died at a mean age of 17 years. The two major causes of death were chronic pulmonary disease with resultant cardiac failure, and disseminated viral infections which characteristically caused a dermatomyositis-like syndrome, hepatitis, pneumonitis, and meningoencephalitis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Agammaglobulinemia / complications
  • Agammaglobulinemia / genetics*
  • Agammaglobulinemia / immunology
  • Agammaglobulinemia / physiopathology
  • Arthritis / complications
  • Bacterial Infections / complications
  • Central Nervous System Diseases / complications
  • Child, Preschool
  • Humans
  • Immunity, Cellular
  • Infant
  • Male
  • North America
  • Prognosis
  • Retrospective Studies
  • Virus Diseases / complications
  • gamma-Globulins / adverse effects
  • gamma-Globulins / therapeutic use


  • gamma-Globulins