NF-κB Essential Modifier (NEMO) Mutations
People with mutations in the NEMO gene, which is located on the X chromosome, cannot “turn on” certain genes, especially those involved in inflammation and the immune response. People with NEMO mutations are highly susceptible to infections.
NEMO is a gene that controls many aspects of the immune system and body formation and function. Because the gene is located on the X chromosome, mutations in the gene almost exclusively affect boys. Mutations in NEMO can result in complete loss of or partial defects in the NEMO protein. Complete loss of NEMO is lethal to the fetus during pregnancy. NEMO syndrome in boys usually is the result of partial defects in the NEMO gene.
Signs and Symptoms
Symptoms of NEMO mutations can include the following:
- Frequent bacterial infections, such as with mycobacteria
- Abnormal imunoglobulin (antibody) levels
- Frequent viral infections
- Abnormal teeth, hair, skin, and nails
Genetic testing can look for and identify NEMO mutations.
People with NEMO mutations receive antibiotics and immunoglobulin replacement therapy to prevent infections. Bone marrow transplants, which re-set and replenish the immune system, also have been used to correct NEMO mutations.