Immunity

Infections and immunity – Emanuel Syndrome

Some children with Emanuel Syndrome have challenges with poor immunity and/or may experience frequent infections.

One of the most common health issues in our children is overwhelmingly recurrent middle ear infections (otitis media). Many of our children have had to have placement of ear tubes, multiple times.

Recurrent chest infection/pneumonia and sinusitis are also seen frequently. 

Other health issues can be urinary tract infections and thrush. 

There are a few (about 20%) who have reported low immunoglobins, a condition that can leave them more susceptible to infection. Some of our children have received special intravenous treatments to help improve their immunity.

“Phoenix has low levels of IGA & IGG. IGA antibodies play a major role in protecting us from infections of mucosal surfaces. Including tears, saliva, colostrum, genital, respiratory and gastrointestinal secretions. IGG is associated with infections of the ears, nose and lungs. Phoenix has only had a couple of infections in the chest and ears. He has not needed any immunoglobulin therapy as his levels have stayed stable.”

“Christy was born July 1986. She had chronic pneumonia from about 8 months old. Even though her labs showed low immunity to pneumonia, doctors also evaluated how often she was hospitalized. At age 4, IVIG therapy was started every two weeks and lasted about 8 months and then her own immune system took over. She did not have any side effects from it. She was healthy, began to eat and was no longer considered ‘failure to thrive’. The feeding tube was removed and best of all she no longer experiences pneumonia and she is now 35. She does have low IGA and has issues with sinuses but nothing major. Medication is dosed as a toddler as her body can only handle low doses.”

You can talk to some of our group members who have children experiencing low immunity by connecting with our social media groups.

Reference

Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957 

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