Rare Medical News
Advertisement
Spotlight On
NEMO syndrome
NEMO syndrome is a rare genetic disease that impacts the immune system that predisposes the patient to frequent and serious infections, it also causes problems related to the skin, as well as the lungs, stomach and urinary tract in some instances
Prevalence
0.1/100,000
100–300
US Estimated
150–400
Europe Estimated
Age of Onset
ICD-10
D84.9
D84.9
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Even among individuals with IKBKG mutations, phenotypic severity can range from life-threatening immunodeficiency to isolated ectodermal features, complicating early diagnosis
FACT
Recurrent pneumonia and chronic diarrhea are common early signs, these symptoms often prompt initial immunologic evaluation in affected males during infancy or early childhood.
FACT
Immune dysregulation may mimic autoimmune disease, in addition to infections, patients can present with colitis, hepatitis, or lupus-like symptoms, often leading to diagnostic delays
FACT
Patients may present with mycobacterial, Pneumocystis jirovecii, or disseminated BCG infections, often early in life
FACT
Due to X-inactivation, female carriers can occasionally have mild manifestations such as skin changes or increased infection susceptibility
Interest over time
Google searches
Common signs and symptoms
Recurrent, severe infections
bacterial, viral, mycobacterial
Ectodermal dysplasia
sparse hair, conical teeth, reduced sweat glands
Chronic diarrhea or colitis
Failure to thrive
Skin infections and abscesses
Poor antibody response to vaccines
Potential neurological issues
in some cases
Current treatments
Immunoglobulin replacement therapy
IVIG/SCIG
Prophylactic antibiotics and antifungals
Aggressive infection management
Hematopoietic stem cell transplant (HSCT)
in select severe cases
Genetic counseling
for families