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Primary Immune Deficiency Diseases

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NF-κB Essential Modifier (NEMO) Mutations

Individuals with mutations in the NEMO gene, located on the X chromosome, fail to turn on certain genes, especially those involved in inflammation and the immune response. NEMO mutations cause a defective response to infections.

Causes

NEMO is a gene that controls many aspects of immune system and body formation and function. Mutations in NEMO are X-linked (disease caused by genes located on the X chromosome) disorders that can result in complete loss of NEMO or partial defects in NEMO. Complete losses of NEMO are lethal to male fetuses during pregnancy. However, the NEMO syndrome in boys usually is the result of partial defects in the NEMO gene, which is not lethal during pregnancy, that allow some amount of protein expression.

Signs and Symptoms

Symptoms of NEMO mutations can include the following:

  • Frequent infections with bacteria
  • Abnormal immunoglobulin (antibody) levels
  • Frequent infections with mycobacteria
  • Frequent viral infections
  • Abnormal teeth, hair, skin, and nails

Diagnosis

Genetic testing can look for and identify NEMO mutations.

Treatment

Patients with NEMO mutations receive antibiotics and immunoglobulin replacement to prevent infections. Bone marrow transplants also have been used to correct NEMO mutations.

Last Updated July 17, 2012

Last Reviewed October 14, 2010