para]]Mutations in the gene DOCK2 leave patients vulnerable to severe early infections[[/para]]
The condition, linked to mutations in a gene called DOCK2, deactivates many features of the immune system and leaves affected children open to a unique pattern of aggressive, potentially fatal infections early in life.
As the researchers-led by Kerry Dobbs and Luigi Notarangelo, MD, of Boston Children's Division of Allergy and Immunology-reported today in the New England Journal of Medicine, DOCK2 deficiency may be detectable by newborn screening and is curable with a hematopoietic stem cell transplant (HSCT).
Until recently, a correct diagnosis for babies born with SCID or other combined immunodeficiencies, such as DOCK2 deficiency, could be made only after these babies had developed serious infections, which could lead to death or compromise the efficacy of an HSCT," said Notarangelo, who is a professor of pediatrics at Harvard Medical School.
The team discovered through whole exome sequencing that all five patients harbored mutations in DOCK2, mutations that rendered the DOCK2 protein inactive.