Researchers have identified a genetic immune disorder characterised by increased susceptibility and poor immune control of Epstein-Barr virus (EBV) and, in some cases, an EBV-associated cancer called Hodgkin's lymphoma.
The researchers studied two unrelated sets of siblings with similar immune problems and determined their symptoms were likely caused by a lack of CD70, a protein found on the surface of several types of immune cells.
Scientists at the US National Institute of Allergy and Infectious Diseases (NIAID), part of the US National Institutes of Health (NIH), conducted the research with an international team of collaborators.
Both sets of siblings had evidence of uncontrolled infection with EBV, a common and usually mild virus, which resulted in the development of Hodgkin's lymphoma in three of these children.
Each child also had other immune symptoms, such as reduced activity of pathogen-fighting T cells, low production of antibodies and poor activation of antibody-producing B cells.
The researchers analysed the genomes of all four children and found that each had two mutated copies of the CD70 gene, resulting in nonfunctioning or nonexistent CD70 proteins.
All four parents, who had healthy immune systems, had only one copy of the mutation--indicating that CD70 deficiency follows an autosomal recessive pattern of inheritance.
This means affected individuals receive a flawed gene from each parent in order to have symptoms.
While no specific treatment for CD70 deficiency currently exists, each of the four children has recovered from Hodgkin's lymphoma and is receiving antibody infusions to help bolster the immune system, the researchers recently reported in the Journal of Experimental Medicine.
--IANS
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