Story at a glance

  • A child was experiencing constant ear infections and red spots on his face.
  • Doctors at the Children's Hospital of Philadelphia sequenced his DNA and found a specific genetic mutation that they think caused his condition.
  • The child received a bone marrow transplant.

Researchers at the Children's Hospital of Philadelphia (CHOP) have reported a new disease that prevents the formation of antibodies. In a paper accepted in the Journal of Experimental Medicine, medical experts discuss a genetic mutation found in the DNA of an infant who experienced constant ear infections, red spots on his face and persistent fatigue. The researchers named this condition PU.1 Mutated agammaglobulinemia (PU.MA).

At first, physicians suspected that the infant, named Luke, had a rare immunodeficiency syndrome. But upon further investigation, they found that his condition was unlike any previously known disease. 

“It can be pretty scary for a family whose child has a mysterious illness,” says Neil D. Romberg, an attending physician with the Division of Allergy and Immunology at CHOP and senior author of the paper, in a press release. “In this case, science provided an explanation, thanks to numerous departments at CHOP, including the Roberts Individualized Medical Genetics Center, the Center for Spatial and Functional Genomics, and the Cancer Center. Understanding the cause of Luke's condition absolutely helped us know what direction to take his therapy.”


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The researchers looked at the genomes of six patients with PU.MA and believe that the patients with this genetic mutation had insufficient levels of a certain protein called PU.1 and, as a results, zero antibodies as a result. Part of the issue with Luke was that he was unable to produce his own B cells. But that was corrected with a bone marrow transplant.

“Knowing the source of the problem removed the boogeyman for the Terrios and allowed them to move their lives forward,” Romberg said. “Figuring out Luke's case not only helped guide his therapy and gave answers to others suffering with this rare condition - in some cases for years - but also opens the door to learning more about the effects of PU.1 on a variety of more common human diseases and conditions.”


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Published on May 06, 2021