Kimberly (Kim) Weeks has spent a lifetime with conditions doctors could never pinpoint causes for or new diagnoses added to her list of chronic conditions. Across her life she always had reoccurring asthma, bronchitis and ear and sinus infections, among other ailments.

“It seemed like every time we would go to the doctor they would say, “You have this’ and ‘Now this is going on,’” Kim said, an avid animal lover who works at a veterinarian clinic in Bradenton, Fla.,

In the spring of 2019, a sinus infection turned into double pneumonia, and she had to be placed on a ventilator for two days. Her doctors were considering removing part of the then-32-year-old’s lung. But they were hesitant to perform the surgery because they were still unsure what was making Kim so sick.

That led Kim to seek treatment from USF Health Jolan Walter, MD, PhD, division chief of the USF Health Pediatric Allergy and Immunology programs in the Morsani College of Medicine.

“I soon established that this is not the primary problem with the lung, but maybe her immune system is making her prone for the disease,” said Dr. Walter, who eventually diagnosed Kim with a version of severe combined immunodeficiency (SCID) referred to as leaky SCID.

Jolan Walter, MD,PhD

Leaky SCID is an atypical immune deficiency in the bone marrow that prevents white blood cells from maturing, which hampers their ability to fight infections. These cases may remain unnoticed for years before emerging with organ-damaging effects as the patient’s own immune system mistakenly attacks the body’s own tissue.

“Not only has Kim lost her immunity … she also acquired autoimmune complications,” Dr. Walter said.

The autoimmune complications included vitiligo, which causes the skin to lose color in blotches, and alopecia, or sudden hair loss. “Over time, it progressively got worse,” Kim said.

DNA samples

Dr. Walter determined that the only solution to restore Kim’s immune system was a bone marrow transplant, or hematopoietic stem cells. It came with risks.

“It was not an easy decision,” Dr. Walter said.

Treating leaky SCID with a bone marrow transplant is experimental, so Kim was sent to a National Institutes of Health (NIH) hospital in Maryland for the procedure.

“I don’t want to die, that’s my biggest fear,” Kim said.

In May 2021, Kim’s brother donated bone marrow for the transplant. She was the eighth person in the country to undergo the procedure for this condition. She was hospitalized for 45 days.

In the year since the transplant, Kim’s health has steadily improved, and she hasn’t seen a return of her symptoms.

“Overall, Kim being a year out of her transplant and the way she looks and feels is one of the biggest gifts that I can get from my career,” Dr. Walter said.

Now 35 years old, Kim can look forward to enjoying her life with family, friends and furry friends thanks to the excellent care provided by Dr. Walter and her team.

Dr. Jolan Walter with Kim Weeks during a follow-up appointment.

“She’s brilliant; she ensured that I’m going to be around to see my nieces and nephews graduate high school, college and be married,” Kim said.

Kim’s treatment was so new that Dr. Walter chronicled her case as the senior author in an article under review for the “Journal of Allergy and Clinical Immunology: In Practice”, with former USF Health Pediatrics chief fellow Maria Chitty Lopez, MD, who is currently affiliated with the Children’s Hospital of Philadelphia, serving as a first author. Kim’s case was also included in a study recently published by Nature Immunology.

Several USF Health team members of Dr. Walter’s laboratory have contributed to Kim’s case including David Evan Potts (MD & PhD student), Dr. Krisztian Csomos (research associate),  Melis Yilmaz (student intern), Boglarka Ujhazi  (biological scientist) and several past and current fellows in training in USF Health Allergy Immunology (Drs. Natalie Diaz-Cabrera, Tara Saco, Leah Ismael) and colleagues from our community (Dr. Roger Danziger).

Dr. Jolan Walter, recruited by both institutions, leads first national genetic screening study for WHIM syndrome, a rare and potentially deadly primary immunodeficiency

From left: Krisztian Csomos, PhD; Jolan Walter, MD; Vicki and Fred Modell

USF Health immunologist Jolan Walter, MD, PhD, was recently visited by Vicki and Fred Modell, co-founders of the Jeffrey Modell Foundation, a global non-profit organization dedicated to diagnosis, treatments and, ultimately, cures for primary immunodeficiency diseases through research, advocacy, patient support and newborn screenings.

The Modells came to St. Petersburg May 24 to tour USF Children’s Research Institute laboratories of pediatrics faculty members Dr. Walter, Jennifer Leiding, MD, Larry Dishaw, PhD, and others. They also rededicated a space in the nearby Johns Hopkins All Children’s Hospital infusion center, naming the space the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies. The new center is led by Dr. Walter, the Robert A. Good Endowed Chair and division chief of Pediatric Allergy and Immunology at the University of South Florida and Johns Hopkins All Children’s Hospital.

Like the Modells’ foundation, the new center honors the memory of the their son Jeffrey, who died at age 15 from complications of primary immunodeficiency – a genetic condition that is chronic, serious, and often fatal.

Dr. Walter, who holds the Robert A. Good Endowed Chair in Immunology, has spent her entire medical career seeking to better understand the genetic mechanisms that cause babies to be born without functioning immune systems or with severely impaired immunity.

Beginning in July, Dr. Walter will lead the first national genetic screening study to aid in diagnosis of patients with WHIM syndrome, a rare, chronic and potentially deadly primary immunodeficiency. Sponsored by the Jeffrey Modell Foundation and clinical stage biotechnology company X-4 Pharmaceuticals, the study will screen up to 300 patients, referred from private offices, community hospitals and academic medical centers, and link clinical signs of the syndrome with the targeted genetic testing needed to confirm a mutation in the set of genes (C-X-C chemokine receptor type 4) causing WHIM.

“The journey for patients with WHIM is long and winding, and can take them to numerous pediatric and adult specialists before specific genetic diagnosis and treatment may be offered. This study aims to establish a systematic approach for the early diagnosis of WHIM patients among physicians working in different fields,” said Dr. Walter, an associate professor of pediatrics at USF Health.  “Most importantly, if the disease is confirmed genetically, patients can begin targeted CXCR4 receptor agonist treatment promoting personalized medicine. We have ongoing clinical trials to help patients receive the medication.”

The Modells co-founded the Jeffrey Modell Foundation in 1987 in memory of their son who died at age 15 from complications of primary immunodeficiency. They recently toured the laboratory of Dr. Walter and other pediatric faculty members at the St. Petersburg-based USF Children’s Research Institute.

Dr. Walter was still a high school student in Hungary when the Jeffrey Modell Foundation was established in 1987. She was not even born when Dr Robert Good, the physician-scientist regarded as the “father of modern immunology” and whose endowed chair Dr. Walter now holds, performed the first successful human bone marrow transplant in 1968 between persons who were not identical twins.

But, her work has been inspired by both.

She has spent her entire medical career seeking to better understand the genetic mechanisms that cause babies to be born without functioning immune systems or with severely impaired immunity — all in pursuit of discovering more accurate diagnoses and better treatments that will allow children to grow into healthy adults.

Dr. Csomos, who promotes basic and translational immunology research in Dr. Walter’s laboratory, speaks with Fred Modell.

An expert in combined immunodeficiencies and immune dysregulation, Dr. Walter was recruited to USF Health Morsani College of Medicine and Johns Hopkins All Children’s Hospital from Harvard Medical School in 2016.  At the USF Children’s Research Institute, just a two-minute walk from the hospital, she continues to build a team to revive in-depth molecular research in primary immunodeficiencies, which affect one in every 2,000 people. These deficiencies can range from life-threatening as in the case of the “boy in the bubble” who suffered from severe combined immunodeficiency (SCID) to milder forms where patients experience frequent pulmonary, sinus or other chronic infections, but also may present atypically with treatment-resistant autoimmune disorders such as cytopenias.

Dr. Walter is a collaborator on a National Institute of Allergy and Infectious Diseases grant investigating immune repertoire and function in typical and atypical SCID.

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The Pediatric Allergy and Immunology team trains fellows on both sides of Tampa Bay working closely with the USF Department of Internal Medicine’s Allergy and Immunology Division led by Richard Lockey, MD.  Dr. Walter’s St. Petersburg-based team members include:

• Leiding, who has been instrumental in the clinical research and care of patients with a wide selection of primary immunodeficiencies.
• Mark Ballow, MD, nationally recognized in diagnosis and management of antibody deficiencies.
• Panida Sriaroon, MD, a clinical expert in primary immunodeficiencies and leader of the Allergy and Immunology Fellowship Program.
• Krisztian Csomos, PhD, recruited by Dr. Walter from Harvard, promotes basic and translational immunology research for Johns Hopkins All Children’s Hospital as part of the Walter’s laboratory.
• Mandel Sher, MD, and Nathan Tang, MD, community physicians specializing in allergy and immunology, also support the team.

The research collaboration between USF Health and Johns Hopkins All Children’s Hospital has promoted multidisciplinary connections with specialties in hematology/oncology (including bone marrow transplantation), cardiology, rheumatology and neonatology.

-Photos by Ryan Noone, University Communications and Marketing