‘Giants’ to tackle primary immunodeficiencies for practicing physicians during conference

Key takeaways:

• The conference will focus on clinical care, including diagnosis and treatment.
• The agenda was designed for allergist-immunologists as well as other specialists.
• The roster includes “giants in the field.”

Primary immunodeficiencies are not as rare as they used to be, James Fernandez, MD, PhD, told Healio, and practicing allergist-immunologists need to be prepared to diagnose and treat them, often in collaboration with other specialists.

“The average delay of diagnosis for these patients is around 13 years,” said Fernandez, vice chair of research, allergy and immunology, Medical Specialty Institute, Cleveland Clinic. “And 25% of these patients go 20-plus years before they’re diagnosed.”

To build awareness of these diseases, accelerate those diagnoses and improve outcomes, Cleveland Clinic will host Updates in Primary Immunodeficiency 2025 from April 4 to 5 at the InterContinental Hotel & Conference Center in Cleveland and in a live stream.

The agenda will include sessions on humoral deficiency, complexities in inborn errors in immunity, advances and the future in diagnostics, care beyond humoral defects, therapies and advances in treatment, and recurrent or secondary infections.

“In this world, especially on the adult side, humoral deficiency or antibody deficiencies are the bulk of these patients,” Fernandez said. “So, we have a whole session dedicated to that.”

Presentations during these sessions will explore noninfectious complications, which may include gastrointestinal, pulmonary, hematologic, autoimmune and dermatologic symptoms, among other manifestations.

“Although infections are one of the primary symptoms in these patients, there are a lot of noninfectious complications that result from a primary immunodeficiency,” Fernandez said.

These complications may include granulomas, skin abscesses, severe enteropathy with villous blunting and diarrhea, and other symptoms, he explained.

“We’re reaching out to those specialties too,” Fernandez said.

Technology and its potential to improve outcomes will be covered as well.

“I am uniquely excited to hear about some of the advances in future diagnostic tools,” Fernandez said, noting how artificial intelligence has advanced overall understanding of the role of genetics in diagnosis and treatment as more than 500 genes have been identified with a role in disease.

“Two years ago, that was 300, so this is moving fast,” he said.

Fernandez also spotlighted presentations on natural killer cell deficiencies and complement defects, as well as treatments such as intravenous immunoglobulin, gene therapy and transplantation, which “for many of these diseases can be curative,” he said.

The speakers include “giants in the field” as well, Fernandez added, including former presidents of professional organizations in primary immunodeficiencies and authors of national guidelines.

Charlotte Cunningham-Rundles, MD, PhD “truly, the world leader in CVID,” Fernandez said — of the Icahn School of Medicine at Mount Sinai will kick off the conference with a talk on the current state of common variable immune deficiency.

Troy Torgerson, MD, PhD, of the Allen Institute, will discuss what physicians should do when they encounter variants of unknown significance.

“We frequently get the dreaded variant of unknown significance, some mutation that they find. But we haven’t, as a field, really been able to classify whether that’s pathogenic or not,” Fernandez said. “So, the big question is what do you do when you get these.”

Jordan Orange, MD, PhD, of Columbia University, Kathleen Sullivan, MD, PhD, of Children’s Hospital of Philadelphia, and Mark Ballow, MD, of the University of South Florida, also are on the roster.

“I’m really excited about our lineup,” Fernandez said.

The conference is designed to be accessible to a broad range of physicians as well, Fernandez continued. For example, specialists who focus purely on immunology will gain insight into “the latest and greatest updates in the field,” he said.

Practicing allergists also would benefit, Fernandez added.

“We’re seeing more and more immunology, so I think a lot of them will appreciate a condensed education on where the state of the field is at,” he said, “with updates on what testing should be done and just to learn how to diagnose and take care of these patients.”

Considering how noninflammatory complications emerge in a variety of symptoms, Fernandez added, gastrointestinal, rheumatology, hematology, and other specialists are welcome as well.

“Twenty percent to 25% of these patients have some type of pulmonary complication from interstitial lung disease or bronchiectasis and frequently end up in a pulmonary clinic, so I think pulmonary doctors can learn from this,” he said.

Similarly, he said, 25% of rheumatology patients have some kind of comorbid autoimmune disease.

“There’s huge overlap, and a lot of these patients hide out in other cohorts throughout the medical field,” he said. “Everybody can benefit from this course.”

Getting diagnosed with a primary immunodeficiency and beginning treatment to prevent infections is not the full scope of care, Fernandez said.

“You need a whole team of people,” Fernandez said. “You really need a team of doctors that understands the big picture and understands this overlap.”

This focus on clinical care in primary immunodeficiency makes the conference unique, Fernandez said, compared with other conferences that might concentrate on research or include primary immunodeficiency among many other topics.

“If you’re a practicing physician, and seeing patients is your primary role, then I think this is going to be extremely helpful,” he said.