INFILTR8: Rare Disease Attacks a Child’s Immune System


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. INFILTR8

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.

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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.

Contributors to this news report include: Marsha Lewis, Field Producer; and Roque Correa, Videographer and Editor.

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REPORT:       MB #4986

BACKGROUND: Toll-like receptors (TLR) sense distinct pathogen associated molecular patterns (PAMPs) and initiate inflammatory reactions important for natural and adaptive defense. Human TLR8 is defined as a functional cleavage product in endosomes of monocytes and macrophages. The RNA degradation products uridine and short oligomers bind cooperatively at two distinct sites in the N-terminal domain. This induces a conformational change of the pre-formed TLR8-dimer leading to MyD88 recruitment and signaling.


DIAGNOSING IMMUNE SYSTEM ISSUES IN CHILDREN: 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 or 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.


NEW STUDY: Megan A. Cooper, MD, PhD, an associate professor of pediatrics at Washington University School of Medicine in St. Louis and a postdoctoral fellow in her laboratory, Jahnavi Aluri, PhD recently identified an additional child with this rare disease and are actively searching for more. More than 30 scientists from a dozen research and medical centers contributed to the TLR8 study. The disorder was named by the fifth patient enrolled in the study, Evan Brandon of Tuscaloosa, Ala. In the study, all six patients with TLR8 variations also suffered from bone marrow failure. Marrow, a soft, spongy tissue found in the center of bones, produces red blood cells, white blood cells and platelets.




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Doctor Q and A

Read the entire Doctor Q&A for Megan Cooper, M.D., Ph.D., Pediatrician

Read the entire Q&A