Cell: This genetic defect made him become a "tree man" after being infected with the HPV virus

Speaking of "tree people", you might think of the Lord of the Rings or Guardians of the Galaxy.

This disease is very rare.

Until his death, he couldn't figure out the specific cause of this horrible disease

On July 1, 2021, researchers from dozens of scientific research institutions such as the University of Paris in France, the Rockefeller University in the United States, and the University of Pennsylvania School of Medicine have collaborated to publish the title: Humans with inherited T cell CD28 deficiency are in the top international academic journal Cell.

The study uncovered the specific reasons why very few people become "tree people" due to HPV infection

The study showed that genetic pure and mutation of CD28 gene is the basis of HPV-2 and HPV-4 infection and leading to severe skin lesions

The genotypes of the three patients (P1, P2, P3) and their family members are as shown in the figure below.

P1 patient is 30 years old, P2 patient is 40 years old, P3 patient is 12 years old, P3 is the daughter of P2

Further analysis by the research team found that the homozygous mutation of the CD28 gene in these three patients led to the disappearance of the CD28-dependent response of their T cells, resulting in a moderately impaired humoral response, including the humoral response against the HPV virus

The research team performed a whole genome sequencing analysis of the P1 patient and found that the HPV-2 virus in his body was in a free state and was not integrated into his genome.

The research team also conducted experiments in CD28 gene-deficient mice and found that CD28 gene-deficient mice are more susceptible to skin infections caused by mouse papillomavirus

The research team pointed out that P1 patients developed skin warts after HPV-2 infection, and showed tree man syndrome ten years later

In addition, the research team did not detect other genetic defects in patients with P1.

It is worth mentioning that these three patients are normal except for the symptoms of tree people and skin warts

Original source:

Vivien Béziat, et al.