A point mutation in NEMO can result in an X-linked recessive ectodermal dysplasia with immunodeficiency. Affected patients show an impaired antibody response to polysaccharide antigens.


Chromosome: Xq28

Gene: NEMO (NF-kappB essential modulator) also referred to as IKK-gamma


The mutation results in impaired NF-kappaB signaling without a complete loss of function.


Inheritance: X-linked recessive


Affected males have/show:

(1) history of unusually severe and life-threatening bacterial infections

(2) history of recurrent bacterial infections affecting

(2a) the lungs, leading to bronchiectasis

(2b) skin and soft tissue, with cellulitis and abscesses

(2c) bone, with osteomyelitis

(2d) meninges, with meningitis

(2e) gastrointestinal tract with diarrhea

(2f) blood (septicemia)

(3) failure to thrive

(4) serious infections following immunization with live vaccines

(5) hypodontia and conical teeth

(6) fine sparse hair

(7) dry skin

(8) decreased or absent sweating


Common bacterial pathogens: Streptococcus pneumoniae, Staphylococcus aureus, Pseudomonas species, Haemophilus influenze, Mycobacteria


Related females may show some of the clinical findings.


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