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HOME/Rare and Complex Conditions/Raising awareness about immune deficiency

Raising awareness about immune deficiency

 

April 26, 2012
Blog Editorial Team
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Ashtyn Carrier was 7 when she was diagnosed with a rare and almost unpronounceable immune-system disorder called Hemophagocytic Lymphohistiocytosis, better known as HLH.

She and her family moved all the way from Minnesota so she could receive treatment at Cincinnati Children’s. She received a successful bone-marrow transplant last year and has returned home.

Another immune deficiency of growing concern is primary immunodeficiency. Even though 10 million people worldwide suffer from primary immunodeficiency – a genetic immune deficiency making them prone to severe infections of skin, organs and other parts of the body – most people have never heard of it.

Even worse is many aren’t aware that they or their child has the disorder, which often is mistaken for repeated serious flu, ear infections, sinus and intestinal infections and other ailments, explains Lisa Filipovich, MD, director of the Immune Deficiency and Histiocytosis Program at Cincinnati Children’s.

“Too often these infections are being treated ineffectively with repeated prescriptions of antibiotics while the underlying cause is missed,” she says. “The consequences can lead to vital organ damage or even be fatal.”

This week is World Primary Immunodeficiency Week, and medical professionals around the world – including at Cincinnati Children’s – are trying to increase awareness about the disease to help ensure that people get the appropriate medical referrals and treatment they need.

If diagnosed in a timely and accurate manner, Primary Immunodeficiency is manageable through appropriate treatment.

Dr. Filipovich offers these warnings signs that a child or adult may have underlying Primary Immunodeficiency, and says if a person has two or more, they should consult their physician about the disease:

1.         Eight or more new ear infections within one year
2.         Two or more serious sinus infections within one year
3.         Two or more months on antibiotics with little effect
4.         Two or more pneumonias within one year
5.         Failure of an infant to gain weight or grow normally
6.         Recurrent, deep skin or organ abscesses
7.         Persistent thrush in mouth or elsewhere on skin, after age 1
8.         Need for intravenous antibiotics to clear infections
9.         Two or more deep-seated infections
10.       A family history of Primary Immunodeficiency

Please pass this information along to others and help us raise awareness of this often undiagnosed condition.

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