The NIH has announced identification of gene variants that cause a rare syndrome that begins in early childhood, now named deficiency of ADA2 (DADA2). The findings appear in the February 19 issue of the New England Journal of Medicine. These findings coincide with an Israeli research group that discovered a set of variants that overlap with the same gene in patients with a parallel type of blood vessel inflammation.

After encountering two patients over the course of ten years experiencing sporadic fevers, skin rashes, and recurring strokes, a genetic cause was suspected. Via whole-exome sequencing, the researchers were able to determine that the patients’ DNA had harmful variants that encode the CECR1 gene. This causes an inability of the gene to produce adenosine deaminase 2 (ADA2), an enzyme that when missing causes abnormalities and inflammation in blood vessel walls. The variants are inherited by the child from both parents.

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This discovery may lead to treatment including specialized drugs to prevent the production of inflammatory proteins and replacement of ADA2 in the bloodstream. The NIH group has received FDA approval for testing the safety and efficacy of utilizing freshly frozen plasma in replenishing ADA2 in DADA2 patients.

For more information call (301) 496-4000 or visit the NIH website for the full press release.