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MYD88 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MYD88 gene

The MYD88 gene provides instructions for a protein that acts as an adapter in immune signaling, helping the body respond to foreign invaders like bacteria.

Normal Function

The MYD88 gene provides instructions for making a protein involved in signaling within immune cells. The MyD88 protein acts as an adapter, connecting proteins that receive signals from outside the cell to those that relay signals inside the cell. It transfers signals from Toll-like receptors and interleukin-1 (IL-1) receptors, which are crucial for the early immune response to bacteria. MyD88 stimulates signaling molecules that turn on nuclear factor-kappa-B, a group of proteins that regulate immune responses, inflammatory reactions, and protect cells from self-destruction (apoptosis).

Health Conditions Related to Genetic Changes

MyD88 deficiency

Inherited (germline) mutations in the MYD88 gene result in MyD88 deficiency. These mutations lead to the production of a nonfunctional protein or no protein at all. Consequently, the immune system cannot relay signals to stimulate an immune response, leading to recurrent, severe bacterial infections.

Waldenström macroglobulinemia

A specific somatic mutation, Leu265Pro (L265P), is found in more than 90 percent of people with Waldenström macroglobulinemia. This mutation is acquired during a person's lifetime and is present only in abnormal white blood cells. The altered MyD88 protein is constantly overactive, stimulating nuclear factor-kappa-B even without external signals. This allows abnormal lymphoplasmacytic cells to survive and accumulate in the bone marrow.

Other disorders and cancers

  • IgM monoclonal gammopathy of undetermined significance (IgM-MGUS): The L265P mutation is found in 50 to 80 percent of cases. When this mutation is present, the condition is more likely to progress to Waldenström macroglobulinemia or other blood cancers.
  • Other cancers: The L265P mutation is also found in some cases of diffuse large B-cell lymphoma (DLBCL) and marginal zone lymphoma, where it is thought to contribute to cancer development through the same overactive signaling mechanism.

Other Names for This Gene

  • MYD88_HUMAN
  • MYD88D
  • myeloid differentiation primary response 88
  • myeloid differentiation primary response gene (88)
  • myeloid differentiation primary response protein MyD88

Frequently Asked Questions

Therapies target the overactive NF‑κB pathway, including Bruton tyrosine kinase inhibitors (e.g., ibrutinib) and anti‑CD20 monoclonal antibodies (e.g., rituximab). Treatment plans are individualized based on disease stage, symptom burden, and patient comorbidities.
Yes, carriers of the L265P mutation have an increased risk of progressing from IgM‑MGUS to Waldenström macroglobulinemia or other lymphoproliferative disorders. Regular monitoring with complete blood counts, serum protein electrophoresis, and imaging as indicated helps detect early disease changes and guide timely intervention.===
Patients with MYD88 deficiency are especially prone to severe bacterial infections such as meningitis, sepsis, and pneumonia caused by organisms like Streptococcus pneumoniae and Haemophilus influenzae. Prevention includes completing the full series of recommended vaccines (especially pneumococcal and meningococcal), receiving antibiotic prophylaxis during high‑risk periods, and seeking immediate medical care at the first sign of infection.
Diagnosis involves a combination of clinical history, blood cultures during infections, and genetic testing for germline MYD88 mutations. Functional assays may assess NF‑κB activation in immune cells after stimulation, confirming impaired signaling.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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