Consulting Immunologist Program educates clinicians

Most people with primary immunodeficiency (PI) remain undiagnosed. Even when a person is diagnosed, they may not have access to the care they need because of gaps in clinician knowledge. The Immune Deficiency Foundation’s (IDF) Consulting Immunologist Program supports clinicians so they can provide more informed care to people with PI.

The program educates clinicians in a peer-to-peer fashion by connecting them with clinical immunologists specializing in PI. These immunologists answer clinician questions on how to proceed with patients who may require an initial diagnosis or additional care post-diagnosis.

“While there are many clinical immunologists who are trained in pediatrics, clinical immunologists with internal medicine training who are routinely diagnosing and treating adult patients are relatively rare,” said Dr. Harry Schroeder, an IDF consulting immunologist and professor/researcher in the Division of Clinical Immunology and Rheumatology at the University of Alabama at Birmingham.

“The program provides a way for practicing physicians who have, to them, a rare case of immunodeficiency to access physicians with extensive experience in the diagnosis and treatment of these patients.”

The program is open to all practicing clinicians, including physician associates, nurse practitioners, allergists/immunologists, obstetricians, or dentists, for example. Clinicians complete a request form via the IDF website and share details on the patient for whom they seek guidance. That request is sent to one of several IDF consulting immunologists who then reply within 24 to 48 hours. Clinicians may use the no-cost service as often as necessary.

Dr. Chioma Enweasor, a pediatric allergist-immunologist at Loma Linda University in California, has sought assistance from the IDF Consulting Immunologist Program several times during her three years seeing patients with PI. Enweasor treats between 20 to 30 patients with PIs including common variable immunodeficiency (CVID), hereditary angioedema (HAE), CHARGE syndrome with low T cells, severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome, and agammaglobulinemia.

“(The program) is the most reliable way to reach immunologists to discuss difficult patients. There is no judgment, just helpful guidance and information,” said Enweasor. “The guidance helps clarify management. It also helps to have secondary input with more complicated patients to present to multi-disciplinary teams.”

In one case, Enweasor requested feedback on how to proceed with care for an infant who had a variant of unknown significance in a gene reported to be connected to PI, but whose symptoms didn’t match what’s been reported for PI-causing variants in that gene. The four-month-old had multiple infections, seizures, and developmental delays. The infant’s sibling had the same gene variant and died after a bone marrow transplant, a treatment often used for severe PIs.

The consulting immunologist ran the gene through a prediction algorithm and found that it was unlikely to be the culprit, so urged Enweasor to ask the sequencing team to reanalyze the whole exome sequencing data for neurological or bleeding disorder variants.

“The guidance did help with the direction of care, especially with options that we could present to parents,” said Enweasor. “Unfortunately, it did not lead to a definitive diagnosis, and the parents were unwilling to go forward with the proposed treatment plan due to a lack of well-known prognosis.” 

Enweasor recommends the program to other clinicians. “The turnaround time is amazing,” she said.

A physician associate and pharmacist in the field of asthma, allergy, and immunology who has practiced for 15 years, Rick DeVuyst treats patients with CVID and has consulted immunologists twice through the program.

“It’s a great resource for confirmation of actions and suggestions for future action,” said DeVuyst. “It also provides enhanced confidence in decision-making.”

IDF consulting immunologist Dr. Kate Sullivan, researcher and chief of the Division of Allergy and Immunodeficiency at Children’s Hospital of Philadelphia (CHOP), said she communicates with as many as eight clinicians annually, guiding patients' next clinical steps.

“It helps ensure that patients get access to best practices,” said Sullivan.

The Consulting Immunologist Program fields on average 40 to 50 queries per year. The immunologists assist with questions on interpreting lab results and determining referrals to specialists. They share their years of experience and education with colleagues, which ultimately benefits patients, said Colleen Brock, IDF manager of medical programs.

“The program serves anybody in the medical or dental fields who sees patients and needs guidance to better treat or diagnose their patients. It can be someone who is just learning the world of immunology or is a pediatrician in a rural area where there is no immunologist, and the closest one is 12 hours away. They can ask questions, get answers, and help a patient without having to send the patient hours away for care,” said Brock.

“You are reaching clinicians who may not have an immunology background, but they have a free resource that will provide them with guidance, so their patients get the best care available no matter where they live in the U.S.”

Although treatment has improved for PI patients over the last several decades, said Schroeder, many patients continue with their illness undiagnosed.

“The IDF’s efforts to educate physicians is extremely important,” said Schroeder. “Access to physicians with extensive experience in the care of these patients can play a major role in optimizing therapy for them.”

Schroeder said clinicians appreciate assistance from the Consulting Immunologist Program.

“After providing my consultation, I frequently receive emails from the referring physicians stating how grateful they are for the service,” he said.