U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > X-linked agammaglobulinemia

X-linked agammaglobulinemia

Synonyms
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; Agammaglobulinemia, BTK; Agammaglobulinemia, Bruton tyrosine kinase; BTK-deficiency; Bruton's agammaglobulinemia; Bruton-type agammaglobulinemia; IMMUNODEFICIENCY 1
Modes of inheritance
X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin substitution therapy. Severe, difficult-to-treat enteroviral infections (often manifest as dermatomyositis or chronic meningoencephalitis) can be prevented by this treatment. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
CI Edvard Smith
Anna Berglöf
view full author information

Available tests

72 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (72 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGMX1, AT, ATK, BPK, IGHD3, IMD1, PSCTK1, XLA, BTK
    Summary: Bruton tyrosine kinase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.