In a scene reminiscent of the wildly popular TV series House, real life medical researchers solved a PI mystery that plagued one family for over four decades. Members of this family displayed deficiencies in natural killer (NK) cells.
The result of the missing NK cells? High susceptibility to viral infections, in particular the virus that causes Epstein-Barr.
Two of the four children in the family died from severe viral infections. One of the four survived multiple infections that endangered his life on many occasions. The final sibling still shows no signs of being affected by this mysterious condition.
This family’s story first appeared in a paper from the early 1980s describing the NK cell deficiency. However, no progress was made in identifying the cause for more than 20 years. In 2004, when the surviving sibling walked into an immunology facility with the paper in hand, the mystery received a jump start.
In the interim, other families were discovered to have similar NK cell deficiencies. However, the researchers had the original family in mind throughout their research.
When the reinvigorated research began in 2004, there was no funding. The researchers worked on the mystery because they wanted to solve it. As new information concerning genetic mutations became available, the National Institute of Health began funding the project.
It turned out that the mother of the family carried one defective gene used in the production of NK cells. The unaffected sibling carried a different defective gene used in the same process. The surviving brother carried both defective genes. Researchers concluded that both defective genes are needed to manifest the NK cell deficiency.
The primary researchers delivered the news of the discovery to the family of the survivor themselves. One researcher claimed it was one of the most rewarding experiences of his professional life.
In episodes of House, the titular character would usually be able to solve the mystery in about 42 minutes. In real life, researchers struggled diligently for twelve years to accomplish this miraculous feat.
