Heather Janene Kearl and Dr. Richard R Tolman, Zoology

Common variable immunodeficiency (CVID) is one of the least understood primary immunodeficiencies. It is a disease where the body attacks its own antibodies, destroying all or most of them. Patients with CVID suffer from recurrent illnesses such as pneumonia, hepatitis, and other infections. While scientists know very little about the illness, there is much information available postulating its origin. In my thesis, I reviewed the current literature concerning CVID and compared it to the real life story of a woman, Darlene Phillips, whose life CVID has shaped.

Originally, I planned to focus my thesis on the ethics of a study in which Darlene Phillips participated. When she was thirty years old, she began to contract illnesses regularly. None of her doctors could understand what was wrong with her, until finally, one realized the signs of a newly discovered disease. He referred her to the National Institutes of Health where she participated in various types of testing for years (1963-2002). One of the tests in which she participated required the participants to risk their lives by exposing themselves to situations in which healthy people can function. Darlene has saved the names of all of the doctors with whom she worked, and I planned to interview them and her to evaluate the ethics of the study. The most difficult part of the thesis was passing the Institutional Review Board. Understandably, the reviewers were concerned with the privacy of the doctors I would interview. They decided that the risks outweighed the benefits of the thesis.

After working with the Institutional Review Board for seven months, they finally advised me to interview only Darlene and do a review of literature. Perhaps in the future, for my personal curiosity, I will contact some of the doctors to get the story from a few points of view. While conducting the review of literature on CVID, I learned a great deal of importance to those suffering from CVID and their families.

The thesis begins with an introduction that shows the reality of CVID, then continues to discuss the literature. After defining CVID and explaining its history, the inheritance and genetic basis of CVID are explored. CVID has now been categorized into four different illnesses, and these are described along with the possible treatments for CVID. Finally, the literature is given a personal aspect in the form of an interview with Darlene Phillips.

The most interesting finding of the thesis is that while knowledge of CVID and its origins has increased over the last 45 years, little has changed in the methods of treatment. CVID patients most often have regular injections of gamma globulin and take one of a few different antibiotics. In the interview with Darlene, I found that she had been doing this since 1978. Now, 24 years later, patients still follow the same treatment.

This lack of progress is due to the lack of understanding of the disease. A few of the possible explanations for CVID are a response to environmental factors, a chromosomal mutation in one of the cascades required to make antigens, or a mutation in one of the proteins responsible for communication between the B-cells and the T-cells.

CVID is highly inheritable and is somehow linked with IgA deficiency. It is normal to find CVID in the parental generation and IgA deficiencies in the following generation. Scientists have found no explanation for the high rate of inheritance, but it suggests a chromosomal mutation.

The most enjoyable part of this project was interviewing and getting to know Darlene Phillips better. She is my grandmother, and it was interesting to see how this disease changed her life. When we were young children, she could not even hug us because she was afraid of becoming ill. Now, she lives a seemingly normal life. Many members of our family suffer from antibody deficiencies, and I consider it very important to understand the disease that I or my children could inherit.

The literature review was difficult to do because the information is so extensive, while being so inconclusive. The many articles contradicted one another and no proposal seemed concrete. Thus, just as Darlene Phillips has been part of a long period of discovery, there will be many in the future who will sacrifice so that perhaps others will not have to suffer so much from the effects of CVID.