A new method to treat patients with hereditary immunodeficiency

Scientists have developed a new approach using recombinant mouse proteins to repair the defective gene in hematopoietic stem cells in patients with hereditary immunodeficiency - X-linked chronic granulomatous disease (X-CGD), according to foreign media reports. Scientists transplanted stem cells into mice that had been repaired and developed into white blood cells with normal function, demonstrating that they could be used to treat patients with X-CGD disease.

X-CGD is a hereditary disease with limited therapeutic options. It is caused by mutations in the CYBB gene, which can cause NOX2 protein deficiency and damage the ability of leukocytes to resist infection. X-CGD patients in vivo white blood cells can‘t kill bacteria, so they are susceptible to infection, threatening the safety of life. In the latest study, scientists from the National Institute of Allergy and Infectious Diseases (NIAID) under the National Institutes of Health focused on mutations in the CYBB gene in which a single change in the genetic code resulted in loss of activity of the NOX2 protein.

The researchers isolated hematopoietic stem cells from two patients and used a gene-editing technique, CRISPR-Cas9, to target and repair this mutant gene. This targeted gene repair method can be defective CYBB gene sequence back to normal human sequences. It is difficult to distinguish between correct genes and normal genes. In the process, the researchers didn't detect CRISPR-Cas9 gene editing technology to produce any unexpected effect. In contrast, other methods of restoring the function of mutated genes often lead to additional changes, including genetic material additions or losses.

The researchers also transplanted stem cells from X-CGD patients into immunodeficient mice and found that these stem cells did not produce adverse effects and that they could differentiate into leukocytes and produce functional NOX2 for up to five months. The study published in the journal Science Translational Medicine suggests that although they need further research, they are now able to provide a theoretical demonstration that this gene-editing method can repair hematopoietic stem cell gene mutations caused by some minor ailments.

Scientists are planning to carry out the next step. The ultimate goal is to use this method for X-CGD patients in clinical treatment. At the same time, they also said that this gene editing method is also applicable to other blood diseases caused by single gene mutation, such as sickle cell anemia. By the way, Flarebio provides you with good-quality recombinant proteins like recombinant CDH2 at good prices.