Finally, These Two Doctors Find the “Missing Link”

Scientists Make Key Discovery in Rare Disease Category

A gene that may play a role in solving the mysteries of autoimmune diseases such as type 1 diabetes, rheumatoid arthritis, and allergies may be what scientists are calling the “missing link” between over- and under active immune activity. Researchers analyzed common variable immunodeficiency disorder (CVID) in their study. CVID causes a weak antibody response to recurrent bacterial respiratory tract infections.

“Although this finding does not lead to immediate clinical applications, it raises new opportunities for understanding underlying causes of different , and eventually developing more effective diagnostic tests and therapies,” said co-study leader, Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia (CHOP) explains in the featured Science Daily article.

At least 25 percent of patients with CVID have various autoimmune disorders, in which the body mounts overactive immune responses. In the study published on Nature Communications, scientists searched for genetic differences between 778 patients with CVID and 11,000 control patients, all from the U.S. and Europe. The findings of the study raised a compelling target for understanding CVID.

“The biological mechanisms that cause disease symptoms in CVID are still unclear,”

added Hakonarson, “but this study may suggest that altered function in [a particular gene] and its associated proteins may represent a ‘missing link’ between immunodeficiency and autoimmunity in CVID. This may offer new opportunities for eventually designing more effective treatments.”

As awareness for CVID and other immunodeficiency disorders become increasingly more prevalent, treatment options and research dollars will become more available. Great organizations like the Immune Deficiency Foundation (IDF) are on the front-lines of the initiative.


Share this story with your friends and on your favorite social network and join the much needed cause of raising awareness for these rare diseases that affect millions of lives.

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