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CARD11 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CARD11 gene

The CARD11 gene provides instructions for a protein that regulates immune system signaling in T and B cells, which are vital for defending the body against infections.

Normal Function

The CARD11 gene provides instructions for making a protein involved in the function of immune system cells called lymphocytes, particularly certain types called T cells and B cells. These cells identify foreign substances such as bacteria, viruses, and fungi and defend the body against infection. When T or B cells recognize a foreign substance, the CARD11 protein is turned on (activated) and attaches (binds) to two other proteins, BCL10 and MALT1, to form the CBM signalosome complex. This complex in turn activates other protein complexes called nuclear factor-kappa-B (NF-κB) and mTOR complex 1 (mTORC1), which are important for cellular signaling. NF-κB and mTORC1 signaling direct the development and function of T and B cells so they can support an immune response against foreign invaders.

Health Conditions Related to Genetic Changes

Atopic dermatitis

At least five CARD11 gene mutations have been identified in people with a skin disorder called atopic dermatitis (also known as atopic eczema). This condition is characterized by dry, itchy skin and red rashes. The word "atopic" indicates an association with allergies. People with atopic dermatitis caused by CARD11 gene mutations often have additional allergic disorders, such as asthma and environmental or food allergies. Many of these individuals also have recurrent infections due to problems with the immune system (immunodeficiency).

A mutation in one of the two copies of the CARD11 gene in each cell is sufficient to cause atopic dermatitis. These mutations result in the production of an altered protein that does not function normally. The altered protein interferes with the normal protein produced from the non-mutated copy of the gene (such mutations are described as "dominant-negative"), so the amount of functioning CARD11 protein in cells is reduced. These genetic changes are thought to prevent formation of the CBM signalosome complex, impairing signaling by NF-κB and mTORC1. Without these signals, T cells do not develop or function properly, leading to recurrent infections.

Omenn syndrome

MedlinePlus Genetics provides information about Omenn syndrome.

Other disorders

CARD11 gene mutations can cause other immune system disorders:

  • Immunodeficiency 11: Caused by "loss of function" mutations in both copies of the CARD11 gene. This leads to an abnormally short, nonfunctional protein, diminishing T cells' ability to fight foreign invaders and causing recurrent severe infections, such as pneumonia.
  • BENTA (B-cell expansion with NF-κB and T-cell anergy): Caused by "gain-of-function" mutations in one copy of the gene. This leads to an overactive CARD11 protein that keeps NF-κB signaling constantly turned on. This promotes the proliferation of B cells (increasing the risk of B-cell lymphoma) while rendering T cells unable to fight infections.

Cancers

Mutations in the CARD11 gene are also associated with cancers of B cells (primarily diffuse large B-cell lymphoma) and T cells (adult T-cell leukemia/lymphoma). These are "gain-of-function" mutations that arise during a person's lifetime. They lead to a constantly active CARD11 protein, causing unregulated NF-κB signaling that allows cells to grow and divide without control.

Other Names for This Gene

  • bcl10-interacting maguk protein 3
  • BENTA
  • BIMP3
  • CARD-containing MAGUK protein 1
  • carma 1
  • CARMA1
  • caspase recruitment domain-containing protein 11
  • IMD11
  • IMD11A
  • PPBL

Frequently Asked Questions

Management involves a multi-faceted approach. For atopic dermatitis, this includes diligent skin care, topical medications, and sometimes systemic treatments. For recurrent infections, prophylactic antibiotics or immunoglobulins may be considered. Managing allergic disorders often requires identifying and avoiding triggers, along with appropriate allergy medications or therapies. Close monitoring by immunologists and allergists is essential.
In addition to severe dry, itchy skin and red rashes, individuals with CARD11-related atopic dermatitis often experience recurrent infections due to immunodeficiency. These can include frequent bacterial, viral, or fungal infections. They may also have other allergic disorders such as asthma, environmental allergies, or food allergies, which are more severe or persistent than typical cases.
Yes, atopic dermatitis caused by a CARD11 gene mutation is typically inherited in an autosomal dominant pattern. This means that inheriting just one copy of the altered CARD11 gene from a parent is sufficient to cause the condition. Therefore, if a parent has the mutation, there is a 50% chance their child will inherit it.
Diagnosis typically involves genetic testing, usually through a blood sample, to analyze the CARD11 gene for specific mutations. This testing is often considered when a person presents with severe, early-onset atopic dermatitis, recurrent infections, and/or other significant allergic manifestations, especially if there's a family history of similar issues.
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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