HealthWatch: INFILTR8 – Rare Disease Attacks a Child’s Immune System

Health Watch

ST. LOUIS, Mo. (Ivanhoe Newswire)— It seems unthinkable, but doctors are still faced with treating diseases that they have never seen before. So rare, that many times they go undiagnosed, misdiagnosed, and mismanaged for years. Another one of these diseases that attacks children, especially boys, has been discovered. And now researchers worldwide are working together to find innovative ways to help save these kids.

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,” shared Evan.

Evan spent most of his high school years battling infections.

“I had a lot of GI issues,” Evan continued.

He’s just one of six boys who have been diagnosed with a mutation in a gene known as TLR8 that plays a fundamental role in activating the immune system

“They have inflammatory response turned on inappropriately,” explained Megan Cooper, M.D., Ph.D., Pediatrician, 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,” said Dr. Cooper.

Dr. Cooper collaborated with 30 scientists from around the world and gathered tissue samples from patients’ lungs, skin, and blood.

“I think the biggest mystery is what is triggering it,” stated Dr. Cooper.

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,” said Evan.

“He’s the one who came up with INFILTR8 , which is a great name and that’s what we’re calling it,” Dr. Cooper said.

Since the study, two more kids with INFILTR8 have been identified. And although all are boys, researchers believe its possible girls are affected as well. They hope by increasing awareness and testing, more patients will be discovered and helped.

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