Scientists discover new genetic immunodeficiency

Researchers have discovered a previously unknown genetic immunodeficiency that leaves affected children open to a unique pattern of aggressive, potentially fatal infections early in life.

The condition, linked to mutations in a gene called DOCK2, deactivates many features of the immune system, the study, based on an analysis of five families, revealed.

The researchers reported in the New England Journal of Medicine that DOCK2 deficiency may be detectable by newborn screening and is curable with a hematopoietic stem cell transplant (HSCT).

"Although congenital immunodeficiencies are rare diseases, the study of these disorders has been essential in identifying key mechanisms governing the immune system's development and function, and how it helps fight against infections," said one of the researchers Luigi Notarangelo from Boston Children's Hospital in the US.

Genetic immunodeficiencies are a group of devastating conditions where mutations to specific genes cause either functional defects or interfere with components of a patient's immune system.

In the current study, the researchers conducted genetic, genomic and immunological analyses on five patients from Lebanon, Finland, Turkey and Honduras/Nicaragua who early in life demonstrated symptoms indicating a severe but distinctive immunodeficiency, one that left patients susceptible to a broad range of infections but particularly vulnerable to viruses.

Three out of the five patients were born of closely related parents, and three were successfully treated by HSCT.

The team discovered through whole exome sequencing that all five patients harboured mutations in DOCK2.