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X-Linked Agammaglobulinemia in Adults (Bruton's Disease)

A primary immunodeficiency caused by mutations in the BTK gene that arrests B-cell development, leading to the absence of mature B cells and severely reduced immunoglobulins; in adults the focus is long-term immunoglobulin replacement, prevention of bronchiectasis, and surveillance for lymphoproliferative complications.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

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What is X-Linked Agammaglobulinemia in Adults (Bruton's Disease)?

X-linked agammaglobulinemia (XLA, Bruton's disease) is caused by loss-of-function mutations in the BTK gene on Xq22.1 encoding Bruton's tyrosine kinase, which is essential for B-cell receptor signaling and survival of pre-B cells.

Males with XLA typically present in infancy with recurrent encapsulated bacterial infections after maternal IgG wanes, but milder cases or subjects with hypomorphic mutations may present in adolescence or adulthood with bronchiectasis, chronic sinusitis, or atypical infections.

Adult management requires regular intravenous or subcutaneous immunoglobulin replacement, individualized antibiotic strategies, screening for and management of bronchiectasis, surveillance for chronic enteroviral or norovirus infection, and long-term monitoring for autoimmune disease and gastrointestinal lymphoproliferation.

Symptoms

Recurrent sinusitis, otitis media, and bacterial pneumonia from encapsulated organisms (Streptococcus pneumoniae, Haemophilus influenzae)
Established bronchiectasis on chest computed tomography with chronic productive cough
Chronic gastrointestinal symptoms: persistent diarrhea, malabsorption, giardiasis, or chronic enteroviral enteritis
Severe or recurrent skin and soft-tissue infections in adolescence and adulthood
Chronic invasive enteroviral meningoencephalitis (rare but characteristic complication)
Reactive arthritis or autoimmune cytopenias on long follow-up

Risk Factors

Male sex (X-linked inheritance) with affected maternal uncles or brothers
Family history of unexplained recurrent infections in male relatives or early infant deaths
Hypomorphic BTK mutations leading to late presentation in adulthood
Chronic uncontrolled sinopulmonary disease in a patient with low total IgG, IgA, and IgM
Absence or near-absence of circulating CD19+ B cells on lymphocyte subsets

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Recurrent bacterial sinusitis and pneumonia in an adult — referral to clinical immunology with quantitative immunoglobulin testing
  • Bronchiectasis on chest CT in a patient with chronic respiratory infections — investigate underlying immunodeficiency
  • Family history of male relatives with unexplained early childhood mortality from infections
  • Persistent diarrhea or unexplained chronic gastrointestinal disease in a known XLA patient — urgent infectious and lymphoproliferative workup
  • Suboptimal trough IgG with breakthrough infections — adjust immunoglobulin replacement

Treatment Methods

01
Lifelong immunoglobulin replacement therapy: intravenous immunoglobulin (IVIG) every 3 to 4 weeks or subcutaneous immunoglobulin (SCIG) weekly, with target trough IgG above 700 mg/dL or higher in patients with bronchiectasis
02
Aggressive treatment of acute infections with antibiotics and consideration of prophylactic antibiotics in selected patients
03
Pulmonary care: airway clearance, treatment of bronchiectasis, vaccination of close contacts, and avoidance of live attenuated vaccines in the patient
04
Genetic counseling for the patient and at-risk female relatives, with carrier testing and prenatal options
05
Long-term surveillance for chronic enteroviral infection, autoimmune complications, and gastrointestinal malignancy by a primary immunodeficiency center

Which Department to Visit?

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