According to Dr. Deepak Chellapandian, a Johns Hopkins specialist in bone marrow transplant for rare diseases, the prognosis for his patient was very poor.

Jocelyn was born with chronic granulomatous disease (CGD). It is a primary immunodeficiency disorder affecting about 1 in 200,000 people.

In a recent article posted by Johns Hopkins All Children’s Hospital, Dr. Chellapandian describes Jocelyn’s severe form of the disease as being very unique.

As Jocelyn grew older, her health issues worsened.

Her lung function began to deteriorate due to inflammation and she had difficulty breathing. This was followed by continuous bleeding from her rectum also from inflammation, but this time it was in her colon. The doctors ultimately removed a large ‘piece’ of her colon.

Normally CGD is treated with antifungal and antibacterial medications, or sometimes anti-inflammatory medicine. Jocelyn, however, was beyond that stage and the doctors believed the best option for her was bone marrow transplantation.

About CGD

 CGD is described as an inherited disorder. Jocelyn, however, has a type that is labeled ‘autosomal recessive inheritance’ meaning that two copies of an abnormal gene must be present for the disorder to develop.

 Normally, white blood cells (phagocytes) are able to kill various types of fungi and bacteria. However, this is not the case with CGD, where patients are highly susceptible to infections which at times may be life-threatening. Daily antifungal or antibacterial medication is often prescribed.

In more severe cases such as with Jocelyn, patients will experience chronic inflammation that involves their liver, lungs, and intestines.

Finding a Match for Transplantation

A protein called human leukocyte antigen is a ‘marker’ found on the majority of cells. It regulates the immune system and is used for marrow transplantation.

These markers have proven to be critical as a match between a donor and the patient. The doctors are not usually successful in obtaining a match for a Hispanic patient. The majority of donors are Caucasian, and therefore not a close match for Jocelyn. Dr. Chellapandian said that they find a close match for Hispanics in only fifteen to twenty percent of their searches.

Working With Donors Who Are a 50 Percent Match

 Johns Hopkins doctors expanded the pool of donors by using a new technique for transplants that involved donors who were a “half-match.”

Half of our chromosomes are inherited from each of our parents. That makes the parents a “half match,” and this applies also to our siblings. Although this technique is used successfully for blood disorders, the doctors have encountered complications with CGD and similar conditions.

Dr. Chellapandian created a method of using the haploidentical bone marrow (half match) transplant, the first to be used in Florida. The transplant is applicable for patients like Jocelyn with fewer complications.

Jocelyn Found a Donor

In March of 2021, Jocelyn’s brother Miguel became her “half-matched” donor.

Dr. Chellapandian and his team collected his stem cells and used a grafting technique that is a T-cell filtration process performed outside the body. They used a device called CliniMACS® to avoid graft versus host disease (GvHD).

GvHD occurs when the donated bone marrow or stem cells that were transplanted perceive the patient’s body as a foreign entity and attack the body.

Researchers suspect that TCR alpha/beta-positive T-cells are somehow responsible for GvHD and depleting these cells could lower the risk of GvHD.

Meanwhile, donor-derived NK (natural killer) cells and gamma/delta T-cells were retained. This process preserves the most essential cells, thus helping the patient’s body to accept the stem cells received from the donor and also to fight infections.

Dr. Chellapandian was pleased to report that Jocelyn came through the transplant without major complications. He announced that she has survived the transplant she received eight months ago and is cured of CGD.

Jocelyn and two other transplant patients that are people of color have now been recipients of Dr. Chellapandian’s new and successful protocol.

Looking Forward

Dr. Chellapandian suggests that the protocol would be of benefit to the children who have been on the waitlist for years because of the inability to find fully matched donors. These children have rare primary hematological and immunodeficiency disorders.