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Updated information on chronic granulomatous disease

Research by Ben Katz, MD, and other investigators has brought new insight on chronic granulomatous disease to light.

A large United States single-center experience with chronic granulomatous disease (CGD) has been updated with new information about the disease, based on research by Ben Katz, MD, professor of pediatrics at Northwestern University Feinberg School of Medicine in Chicago, Illinois, and other investigators. This update provides new insight on CGD since the prior update in October 2015.1

CGD is a lifelong disease which weakens the immune system, causing patients to experience multiple infections, many of which can be life threatening.2 Patients with CGD will often be hospitalized, and face other symptoms such as weight loss, chronic fatigue, diarrhea, and inflammation of the intestines leading to abdominal pain.

“There are about 20 people born with CGD each year in the United States, and their diagnosis is often delayed,” said Katz. “Making an earlier diagnosis can positively impact their quality of life.”

Children are often diagnosed with CGD before the age of 5 years and will spend most of their lives dealing with infections. In order to help physicians learn the best method of caring for patients with CGD, Katz and his team sought to describe features of the disease and make it easier to recognize.3

In the study, investigators reviewed records from 26 patients with CGD from November 2013 to December 2019. They found aspergillus, serratia, burkholderia, Staphylococcus aureus, and klebsiella were the most common infectious agents, while pneumonia, lymphadenitis, and skin abscess were the most common serious illnesses.

Infections declined over the 6-year time period compared to a prior study period, from 0.62 per patient-year in the study period of March 1985 to November 2013 to 0.2 per patient-year in the 2013 to 2019 time period. There were no recorded deaths, and of the 4 patients evaluated for human stem cell transplants, 2 had successful transplantation. Triple prophylaxis–antifungals, antibacterials, and interferon gamma-1b were able to maintain 75% of patients.

“As people get older, infections seem to become less of a problem,” said Katz. “We are trying to figure out why this is.”

There were 2 unusual infections recorded during the study period. A pulmonary basidiomycosis infectionwas recorded in 1 patient, which required a lobotomy to remove and is consistently treated with specific antifungal therapy. Also, a patient aged 4 months was diagnosed with right middle lobe pneumonia due to pneumocystis and bronchoalveolar lavage.

CGD most often affects male patients, while female patients carry the disease for their children to inherit. In some cases, these female patients can experience an increased rate of infections and experience the same autoimmune disorders as male CGD patients. This had led Katz to put more focus into studying female carriers.

“CGD is a genetic condition that children typically inherit from their parents,” said Katz. “If pediatricians suspect an immune disorder like CGD, they should test their patients for the disease–and, if it comes back positive, it is imperative for siblings and parents to get genetic testing themselves. This is especially true given what we now know about female carriers of CGD and how they can experience symptoms that may benefit from medical management.”

Katz considered the results of the study to highlight the necessity of understanding how CGD can be treated. He suggested specialists who can help individual patients with robust treatment plans for treating those afflicted with CGD.

“My biggest recommendation is this,” Katz said, “Don’t go it alone! These patients are so complicated that you’ll want to seek out someone with experience to consult with for their care.”

Reference

Bortoletto P, Lyman K, Camacho A, Fricchione M, Khanolkar A, Katz BZ. Chronic granulomatous disease: alarge, single-center US experience. Pediatr Infect Dis J. 2015;34(10):1110-4. doi:10.1097/INF.0000000000000840

Katz B. Email interview. Published online August 22, 2022.

Oikonomopoulou, Z., Shulman, S., Mets, M. Katz BZ. Chronic granulomatous disease: an updated experience, with emphasis on newly recognized features. J Clin Immunol. (2022). doi:10.1007/s10875-022-01294-6