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PubMed This is a summary of 48 peer-reviewed journal articles Updated
Clinical Immunology

Agammaglobulinemia 10, autosomal dominant (AGM10): A Patient Guide

At a Glance

Agammaglobulinemia 10 (AGM10) is a rare inherited immune disorder caused by an SPI1 mutation that limits B-cell and antibody development. Lifelong immunoglobulin replacement, lung monitoring, and prompt infection treatment help reduce health risks.

Agammaglobulinemia Type 10 (AGM10)—also referred to as PU.1 deficiency or PU.MA—is an exceptionally rare genetic condition that alters the way the immune system develops. It is caused by a mutation in the SPI1 gene, which provides the blueprint for a protein known as PU.1. This protein acts as a master regulator within your body, opening up the genetic instructions needed to create several critical types of white blood cells [1][2]. When this protein is deficient, the body is generally unable to complete the production of B cells, which are the cells responsible for developing into antibody-producing plasma cells, and dendritic cells, which act as scouts to alert the rest of the immune system to an invader [1][3].

Because the body is severely limited in its ability to produce its own antibodies, the primary consequence of AGM10 is a profound vulnerability to infections. This often manifests as recurrent respiratory issues, such as pneumonia and chronic sinus infections, as well as gastrointestinal challenges [2][3]. Beyond typical bacteria, individuals with severe antibody deficiencies face risks from certain viruses, particularly enteroviruses, which require careful monitoring [2]. While the genetic variant is present from birth, the age at which symptoms first appear and their overall severity can vary significantly between different people, even within the same family [2][4].

Living with AGM10 requires a lifelong, proactive approach to immune health centered on replacing the antibodies the body cannot make. The cornerstone of management is Immunoglobulin Replacement Therapy (IgRT), which provides a steady supply of protective antibodies harvested from healthy donors [5][6]. This therapy is combined with vigilant monitoring of organ health, particularly the lungs, and swift, specialist-directed treatment of new infections. By working closely with an immunology team to establish an individualized care plan, many people with rare antibody deficiencies can manage their risks and lead active lives [5][7].

In this guide

6 chapters

01

Understanding Agammaglobulinemia Type 10 (AGM10)

Learn about AGM10 (agammaglobulinemia), including SPI1 genetics, autosomal dominant inheritance, symptoms, diagnosis, and immunoglobulin treatment options.

02

Recognizing Symptoms and Emergency Warning Signs of AGM10

Learn to recognize AGM10 symptoms and emergency warning signs, including severe infections, neurological changes, breathing problems, and post-transplant fever.

03

The Biology of AGM10 and Look-Alike Conditions

Learn how Agammaglobulinemia type 10 involves SPI1 and PU.1, how inheritance works in families, and how genetic testing distinguishes similar immune conditions.

04

Reading Your Immunology and Genetic Reports for AGM10

Learn how to read Agammaglobulinemia 10 (AGM10) reports, including B-cell counts, immunoglobulin levels, SPI1 variants, VUS results, and tests your team needs.

05

Standard of Care Treatment Strategy for AGM10

Learn how AGM10 treatment uses IVIG or SCIG, infection prevention, vaccine planning, and rare transplant evaluation, including infection monitoring and risks.

06

Living with AGM10: Infection Prevention and Daily Management

Learn how to live with autosomal dominant agammaglobulinemia 10 (AGM10), including infection prevention, monitoring, vaccines, lung care, and daily management.

Common questions in this guide

What is agammaglobulinemia 10 (AGM10)?
AGM10 is an exceptionally rare inherited immune condition caused by a change in the SPI1 gene. This change disrupts development of B cells and dendritic cells, limiting the body's ability to make protective antibodies and respond to infections.
What infections and symptoms can AGM10 cause?
AGM10 can lead to recurrent respiratory infections, including pneumonia, chronic sinus infections, and gastrointestinal problems. People with severe antibody deficiency may also need particular monitoring for some viral infections, including enteroviruses.
How is AGM10 managed?
The mainstay of care is lifelong immunoglobulin replacement therapy, which supplies protective antibodies collected from healthy donors. An immunology team also monitors organ health, especially the lungs, and directs prompt treatment when new infections occur.
How does immunoglobulin replacement therapy help with AGM10?
Immunoglobulin replacement therapy provides a steady supply of antibodies that the body cannot make adequately on its own. The immunology team selects an individualized strategy based on the person's clinical history and ongoing infection risk.
Can AGM10 affect family members?
AGM10 is linked to a mutation in the SPI1 gene and is described as autosomal dominant, so a genetic counselor can help explain possible implications for relatives. Testing for family members should be discussed with a qualified genetics professional.
How should lung health and infections be monitored with AGM10?
Regular follow-up with an immunology team can help monitor lung health and identify problems early. Patients should have a clinician-approved plan for tracking symptoms and seeking urgent care, especially when a new infection is suspected.

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References

References (7)
  1. 1

    Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.

    Le Coz C, Nguyen DN, Su C, et al.

    The Journal of experimental medicine 2021; (218(7)) doi:10.1084/jem.20201750.

    PMID: 33951726
  2. 2

    One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

    Knox AVC, Cominsky LY, Sun D, et al.

    Blood 2025; (145(22)):2549-2560 doi:10.1182/blood.2024026683.

    PMID: 39854693
  3. 3

    Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia.

    Miskovic R, Ljubicic J, Bonaci-Nikolic B, et al.

    Frontiers in immunology 2024; (15()):1324679 doi:10.3389/fimmu.2024.1324679.

    PMID: 38500873
  4. 4

    Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia.

    Daddali R, Kettunen K, Turunen T, et al.

    Clinical immunology (Orlando, Fla.) 2025; (277()):110503 doi:10.1016/j.clim.2025.110503.

    PMID: 40294836
  5. 5

    X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up.

    Yıldırım İ, Topyıldız E, Bilgin RBG, et al.

    American journal of clinical and experimental immunology 2021; (10(1)):37-43.

    PMID: 33815962
  6. 6

    Pharmacokinetics of a novel human intravenous immunoglobulin 10% in patients with primary immunodeficiency diseases: Analysis of a phase III, multicentre, prospective, open-label study.

    Melamed IR, Borte M, Trawnicek L, et al.

    European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences 2018; (118()):80-86 doi:10.1016/j.ejps.2018.03.007.

    PMID: 29522908
  7. 7

    Primary antibody deficiencies.

    Nguyen AT, Aquino MR

    Allergy and asthma proceedings 2024; (45(5)):310-316 doi:10.2500/aap.2024.45.240052.

    PMID: 39294911

This page is for informational purposes only and does not constitute medical advice. Your immunology team should interpret your infection risk and guide your immunoglobulin replacement plan.