Clinical Presentation of NEMO

NEMO can be a difficult diagnosis because of the wide range of presentations. Three typical presentations include:

  1. Susceptibility to pyogenic infections
  2. Ectodermal Dysplasia
  3. Susceptibility to Mycobacterial infection.

In the developed world, patients tend to present with susceptibility to pyogenic infections. Most commonly, patients tend to present with severe infections with the bacterium, S. pneumoniae, despite universal vaccination. Meningitis during the first year of life is a common presentation. Patients can also have deep tissue infections with S. aureus in the skin, liver, abdomen, bones, and lungs.

Ectodermal dysplasia is difficult to recognize early in life. As infants often have eczematous rashes and thin, sparse hair, infants with ectodermal dysplasia may go undetected. The eruption of conical teeth, however, is an important sign that should be examined closely.

In developing countries, particularly those that use the Bacillus Calmette- Guérin (BCG) live vaccine, patients with the NEMO syndrome may present with disseminated BCG-osis with the vaccine strain of the mycobacteria often invading a number of organ systems.

While meningitis or other deep tissue infection raises the immediate concern for a primary immunodeficiency, the presentation of the NEMO syndrome can also be more subtle with a history of recurrent skin infections or an infectious history similar to the presentation of common variable immunodeficiency. Fungal infections have also been noted in these patients.

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