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Living with Isolated agammaglobulinemia

An immune system condition in which the body makes too few antibodies, leading to frequent infections starting in infancy.

Understanding Isolated agammaglobulinemia

Isolated agammaglobulinemia is a primary immune deficiency with low gamma globulins (antibodies) and no other syndrome features.

Gamma globulins help the body fight germs. When they are low, people get frequent and repeated infections starting in infancy. This is the form that occurs without other syndrome features (non-syndromic).

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Repeated respiratory infections
  • Pneumonia
  • Middle ear infections
  • Sinus inflammation (sinusitis)
  • Diarrhea
  • Slow weight gain (failure to thrive)

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include allergy and immune system specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    Immune Deficiency Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
Expert care
Expert lists: Immune Deficiency Foundation
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Jeffrey Modell Foundation and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Which type of inheritance applies to our family?
How is my antibody level checked, and how often?
How should we handle fevers and infections?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Dominant, Autosomal Recessive, X-Linked

Changes in genes cause this condition. GARD lists autosomal dominant, autosomal recessive, and X-linked inheritance, so it can be passed down in different ways.

Genetic

Also known as: isolated hypogammaglobulinemia; nonsyndromic agammaglobulinemia

Patient organizations

Source: NIH GARD · Isolated agammaglobulinemiaGARD ID 17155 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Isolated agammaglobulinemia.

Explore the Isolated agammaglobulinemia blog

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Explore actively recruiting Isolated agammaglobulinemia studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Isolated agammaglobulinemia with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
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  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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