Paula and Bobby
Parents of Lillie
Hyper-IgE Recurrent Infection syndrome
What is Hyper-IgE Recurrent Infection syndrome?
Once known as Job syndrome, this rare disease can affect multiple systems and parts of the body, but mainly affects the immune system. This triggers recurrent infections in affected individuals. Inflammation and pneumonia being the most common medical conditions triggered by a compromised immune system. Frequent infections can have an impact on other parts and systems of the body too, triggering other health conditions.
To date it is believed to occur in less than 1 million people globally, making it very rare.
What gene changes cause Hyper-IgE Recurrent Infection syndrome?
Changes in the STAT3 gene are responsible for most of the cases of this syndrome. It is inherited in an autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
The following genes IL6R, IL6ST, DOCK8 and ZNF341 are linked to autosomal recessive variants of the syndrome.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Hyper-IgE Recurrent Infection syndrome?
The main symptoms are frequent infections, including pneumonia and inflammation. Recurrent pneumonia can also cause air-filled cysts to develop in the lungs. While constant and repeating inflammation can cause damage to body tissue. Recurrent skin infections are also triggered by the syndrome, and specifically eczema.
Skeletal abnormalities are also a common feature of this syndrome, including scoliosis, a reduction in bone density also features, and individuals may be more susceptible to bone fractures. Individuals may also experience symptoms that affect their teeth, particularly the failure of baby or first teeth to fall out when they should.
Other possible symptoms include heart abnormalities, brain abnormalities (that do not impact on intellectual and cognitive ability and or functioning) and unique facial features.
How does someone get tested for Hyper-IgE Recurrent Infection syndrome?
The initial testing for Hyper-IgE Recurrent Infection syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing
What is FDNA Telehealth?
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