IDF Consulting Immunologist Discovers New PID and Brings answers to Three US Families

I will never forget that cold December day in 1997 sitting in my son Mark's hospital room at Rainbow Babies and Children's Hospital of Cleveland. Dr. Robert Hostoffer, Marks immunologist walked into the room and said, "We found it. We found the needle in the haystack".  This was only a few months after being told that it was very unlikely that we would ever know what caused my sons Primary Immune Deficiency. I cried as Dr. Hostoffer explained things to my husband and I.  I remember looking at Dr. Hostoffer and stating, "So I am not crazy" and he gently said to me, "No, you are not crazy".  We had been through so much since Mark had been born: countless doctors' appointments; specialists of all types; surgeries; endoscopies; colonoscopies; numerous medications; infection after infection, first the ears, then the sinuses, then the lungs. The ER staff at two local hospitals knew us by first name. This was only the beginning, however.  What I did not know at the time of learning my sons PID defect, is that is was unheard of, meaning never reported in the history of medicine. So our journey begins.

The first first red flag was that Mark did not make any response (zero, not a mark on the page) to the pneumococcal vaccine. This was repeated to make sure there was not a lab error as Marks immunoglobulin levels were below normal, but not that low. The second vaccine showed that 12 out of 12 titers were completely absent; confirming that Mark had immunoglobulins, but that they did not work at all. As Dr. Hostoffer investigated further, he found that Mark made no response to the meningococcal or HIB as well. The finding that was absolutely astonishing,however; was that Mark had 100% Cd5+ cells. This was unheard of.  In medical history, reports have been seen up to 50% of Cd5 cells, but levels this high had never been seen. Elevation of Cd5 cells are seen in the following: a fetus; a post bone marrow transplant patient; Chronic Lymphatic Leukemia; autoimmune diseases; and now in this newly discovered PID. Cd5+ cells make autoantibodies that in turn can attack the body in the form of autoimmune diseases. In addition, it was found that Mark does not make enough Cd5- cells or mature b-cells, possibly due to the high expression of Cd5+.  Hence, these boys have two problems: i.e. no antibodies that work for them at all, and an expression of another cell that can attack the body in various ways, including malignancies. Dr. Hostoffer strongly suspects that there is also a defect in the T-cell, perhaps in the IL4, Gamma Interferon, etc., but to what extent is unknown as of this time.

To date there are 5 boys in the world with this PID. Dr. Hostoffer treats the 3 that are in the U.S. Each of the boys that Dr. Hostoffer treats has already begun to show some form of autoimmune disease and each of the boys has had some life-threatening health problems. One boy has alopeica totalis, complete hair lost; another boy has had an acute hemiplegia episode, which is a stroke;  Mark has an evolving Inflammatory bowel disease, probably Crohn's Disease, among many other medical problems. The treatment plan for this moderate to severe PID will depend largely on the extent of illness and severity that each patient exhibits. IVIG is Mark's present treatment along with numerous supportive medications and close medical supervision.

To date, all the patients found to have this PID (which has been named the Cd5-Cd19 PID) are all male, bringing suspicion that it could be X-linked. There have been no adults found as of yet. The research continues, and Dr. Hostoffer spends countless hours trying to put the pieces together of this medical mystery. I have told him that the hardest thing of all, for me, is that these boys are first in line. They will be the ones to write the medical history. It worries me that we have no certainty as to what the future will bring for the quality of life or life expectancy. This is something that I have to deal with daily, and something that I have discussed with Dr. Hostoffer time and time again. Dr. Hostoffer cannot guarantee what the future will bring, as he simply does not know. He tells us that immunology is complex and that defects can occur in any number of places in a system that is highly involved and complicated. Recently, we had the opportunity to unite all the families in the US with the Cd5-Cd19 PID together, to meet one another and go over what is known so far. It was a bittersweet gathering, bringing about many emotions for myself and the others. I no longer felt that I was alone in this battle and seeing the smiling faces of the other boys melted my heart. It is complicated and as Dr. Hostoffer puts it "It will take years to understand and we will have to take baby steps, but we will eventually get there". I do not pretend that some days are not more difficult than others, but I believe in Dr. Hostoffer and I trust him. His kind, soft spoken approach has made me feel more hopeful. He follows Mark closely, along with other medical specialists, and I feel certain that we are in the best hands. I have confidence in him that he will figure this all out someday. Hopefully, these boys will withstand the test of time. For now, I try to follow some of the best advice that Dr. Hostoffer has given me so far, and that is to go home and enjoy my son. "Play with him, laugh together and live as normal a life as possible".....

That is just what we are doing, and I do an awful lot of praying as well. 

Autumn Austin

For information on this website, or to send comments or questions, contact Autumn Austin at autti@comcast.net  
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This page last updated 09/08/2002