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YOUR HEALTH: It's a rare disease in boys that's seldom diagnosed

INFILTR8 is so rare that many times it'll go undiagnosed, misdiagnosed, and mismanaged

ST. LOUIS — Evan Brandon taught himself how to play the mandolin when a rare disease forced him to take a break from his strenuous studies at Princeton.

"I was basically in and out of the hospital every few weeks."

Evan spent most of his high school years battling infections.

"I had a lot of GI issues."

He's just one of six boys who have been diagnosed with a mutation in a gene known as TLR-8 that plays a fundamental role in activating the immune system

"They have inflammatory response turned on inappropriately," explained Dr. Megan Cooper, a pediatrician at the Washington University School of Medicine.

Most patients suffer a low count of neutrophils, white blood cells that patrol the immune system, and act as first responders by destroying foreign invaders.

"Their body is basically turning on without a trigger and this high inflammatory response that they have leads to lowering of their immune cells," Dr. Cooper said.

She collaborated with 30 scientists from around the world and gathered tissue samples from patient's lung, skin, and blood.

"I think the biggest mystery is what is triggering it."

Evan received a bone marrow transplant to replenish the white blood cells. 

He believes it cured him and asked if he could have the naming rights for the disease.

"It's infiltrate spelled I-N-F-L-T-R-8, which stands for inflammation, neutropenia, bone marrow failure, lympho proliferation, caused by TLR8," he explained.

"He's the one who came up with Infilt8," said Dr. Cooper. 

"Which is a great name and that's what we're calling it."

You can contact Diane Duke Williams at Washington University in St. Louis for more information. 

Since the study, two more kids with INFILTR8  have been identified.

Although all are boys, researchers believe its possible girls are affected as well. 

More than 30 scientists from a dozen research and medical centers contributed to the TLR8 study

Evan was the fifth patient enrolled in the study.

The possible signs of INFILTR8

All of the patients with TLR8 variations also suffered from bone marrow failure. 

One of the most common signs of INFILTR8 is having infections that are more frequent, longer lasting or harder to treat than are the infections of someone with a normal immune system. 

Signs and symptoms can vary from person to person and can include:

  • frequent and recurrent pneumonia
  • bronchitis
  • sinus infections
  • ear infections
  • meningitis
  • skin infections. 

Signs can also include Inflammation and infection of internal organs, blood disorders, digestive problems, and delayed growth and development. 

Doctors may run blood tests to determine if there are normal levels of infection-fighting proteins in your blood and measure the levels of blood cells and immune system cells. 

Parents might want to be tested for certain immunodeficiency disorders during future pregnancies if they have a child that has experienced issues with their immune system.

If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Jim Mertens at jim.mertens@wqad.com or Marjorie Bekaert Thomas at mthomas@ivanhoe.com.