Overview

X-linked agammaglobulinemia (a-gam-uh-glob-u-lih-NEE-me-uh) — also called XLA — is an inherited (genetic) immune system disorder that reduces your ability to fight infections. People with XLA might get infections of the inner ear, sinuses, respiratory tract, bloodstream and internal organs.

XLA affects males almost exclusively, although females can be genetic carriers of the condition. Most people with XLA are diagnosed in infancy or early childhood, after they've had repeated infections. Some people aren't diagnosed until adulthood.

X-linked agammaglobulinemia care at Mayo Clinic

Symptoms

Babies with XLA generally appear healthy for the first few months because they're protected by the antibodies they got from their mothers before birth. When these antibodies clear from their systems, the babies begin to develop often severe, recurrent bacterial infections — such as of the ears, lungs, sinuses and skin — that can be life-threating.

Male infants born with XLA have:

  • Very small tonsils
  • Small or no lymph nodes

Causes

X-linked agammaglobulinemia is caused by a genetic mutation. People with the condition can't produce antibodies that fight infection. About 40% of people with the condition have a family member who has it.

Complications

People with XLA can live relatively normal lives and should be encouraged to participate in regular activities for their ages. However, recurrent infections related to XLA will likely require careful attention and aggressive treatment. They can cause organ damage and be life-threatening.

Possible complications include:

  • Chronic lung disease
  • Increased risk of certain cancers
  • Infectious arthritis
  • Increased risk of central nervous system infections from live vaccines

X-linked agammaglobulinemia care at Mayo Clinic

Sept. 09, 2022

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  1. X-linked agammaglobulinemia. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/1033/x-linked-agammaglobulinemia. Accessed Nov. 24, 2019.
  2. Hernandez-Trujillo VP. Agammaglobulinemia. https://www.uptodate.com/contents/search. Accessed Nov. 24, 2019.
  3. X-linked agammaglobulinemia. Merck Manual Professional Version. https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/x-linked-agammaglobulinemia. Accessed Nov. 24, 2019.
  4. AskMayoExpert. Common variable immunodeficiency. Mayo Clinic; 2018.
  5. X-linked agammaglobulinemia. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia#:~:targetText=X%2Dlinked%20agammaglobulinemia%20(XLA),protect%20the%20body%20against%20infection. Accessed Nov. 24, 2019.
  6. Agammaglobulinemia: X-linked and autosomal recessive. Immune Deficiency Foundation. https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/agammaglobulinemia-x-linked-autosomal-recessive/?gclid=EAIaIQobChMIuPyMwJ2D5gIVyEXVCh2P3AYZEAAYASAAEgJY_fD_BwE. Accessed Nov. 24, 2019.
  7. Brown AY. Allscripts EPSi. Mayo Clinic. Nov.14, 2019.

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