Patients With PI Often Present With Noninfectious Manifestations

Just over 20% of patients with primary immunodeficiency diseases (PID) who did not receive prior curative therapy developed at least 1 noninfectious manifestation during a 10-year follow-up period, French researchers found.

Investigators retrieved data from a retrospective cohort of 1375 patients included in the French National Reference Center for Primary Immune Deficiencies (CEREDIH) to determine the extent and severity of noninfectious manifestations among patients with PID.

Specialized centers in university hospitals followed these patients from 2009 to 2018 and found that 20.1% of patients without prior curative therapy (N = 1163) developed at least 1 manifestation.

Of the 277 events noted, virtually all diagnostic groups and ages were affected by autoimmune/inflammatory events (n = 138) and malignancies (n = 85). PID These manifestations were associated with a risk of death in 195 patients (14.2%) and were found to cause death in 43% of cases.

“Malignancies (odds ratio, 5.62; 95% confidence interval, 3.66-8.62) and autoimmunity (odds ratio, 1.9; 95% confidence interval, 1.27-2.84) were clearly identified as risk factors for lethality,” the researchers wrote in the Journal of Allergy and Clinical Immunology. “Patients who underwent curative therapy (mostly allogeneic hematopoietic stem cell transplantation, with a few cases of gene therapy or thymus transplantation) before the 10-year study period (n = 212) had comparatively reduced but still detectable clinical manifestations (n = 16) leading to death in 9.4% of them.”

The authors concluded that the results of this study “warrant further prospective analysis to better assess their consequences and to adapt therapy, notably indication of curative therapy.”

—Rebecca Mashaw

Reference:

Alligon M, Mahlaoui N, Courteille V, et al. An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years. J Allergy Clin Immunol. 2022;149(6):2116-2125. doi: 10.1016/j.jaci.2021.12.790