Trends in Primary Immunodeficiency Disorders

Primary immunodeficiency disorders (PIDD) comprise a large, heterogeneous group of more than 200 (and increasing) rare genetic-driven immune system disorders that typically manifest during childhood and adolescence, but also can arise or be diagnosed during adulthood. PIDDs compromise some aspect of the immune system and, depending on the underlying genetic mutations and downstream affects, can leave patients susceptible to chronic infections or prove be outright lethal. In some cases, susceptibility to chronic infections may significantly increase the risk for developing various types of cancer. 

In January 2022, a multidisciplinary team from UPMC Children’s Hospital of Pittsburgh Division of Allergy and Immunology and Division of Pediatric Hematology/Oncology published a new study in the Journal of Allergy and Clinical Immunology on “Trends in Pediatric Primary Immunodeficiency: Incidence, Utilization, Transplantation, and Mortality.”

Taylor Eddens, MD, PhD, fellow from the Division of Pediatric Allergy and Immunology was the first author of the study, and Ramasubramanian Kalpatthi, MD, from the Division of Pediatric Hematology/Oncology was the study’s senior author. Also contributing to the study Hey Chong, MD, PhD Division Director of Pediatric Allergy and Immunology, and Meghan McCormick, MD, MS, from Hematology/Oncology, in addition to pediatric resident Molly Mack, MD.

The UPMC Children’s team investigated trends in PIDD in the United States by analyzing data from the Pediatric Health Information System database on all cases of PIDD variants recorded for a 14-year period from 2004 to 2018. 

The team sought to evaluate the rates of incidence, mortality rates in pediatric patients, frequency of stem cell transplantation and outcomes, and general trends in healthcare utilization in patient groups.

Important findings from the analysis found that during the study period the rate of diagnosis was unchanged at 2.8 per 1,000 discharges. Hospitalizations for PIDD diagnoses also was steady during the study period at 6.3 per 1,000.

Interestingly, cases involving B-cell and antibody defects increased over time for children and adults but not for infants.

Disorders involving T-Cells drove the highest proportion of admissions to the intensive care unit.

A small fraction of patients, 747, had stem cell transplants as curative therapies. The team found that both rates of complications and morbidities, and mortalities associated with stem cell transplantation decreased over time.

Overall mortality rates for diagnosed cases of PIDDs also sharply decreased over time, which bodes well for this patient population as a whole.

Explore the study’s findings in detail using the reference link below.

Reference

Eddens T, Mack M, McCormick M, Chong H, Kalpatthi R. Trends in Pediatric Primary Immunodeficiency: Incidence, Utilization, Transplantation, and Mortality. J Allerg Clin Immmunol. 2022; 10(1): P286-P296.