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. 2022 Jan;10(1):286-296.e3.
doi: 10.1016/j.jaip.2021.10.033. Epub 2021 Oct 27.

Trends in Pediatric Primary Immunodeficiency: Incidence, Utilization, Transplantation, and Mortality

Taylor Eddens  1 , Molly Mack  2 , Meghan McCormick  3 , Hey Chong  4 , Ramasubramanian Kalpatthi  3
Affiliations

Trends in Pediatric Primary Immunodeficiency: Incidence, Utilization, Transplantation, and Mortality

Taylor Eddens et al. J Allergy Clin Immunol Pract. 2022 Jan.

Abstract

Background: Primary immunodeficiency disorders (PIDDs) describe a myriad of diseases caused by inherited defects within the immune system. As the number of identified genetic defects associated with PIDDs increases, understanding the incidence and outcomes of PIDD patients becomes imperative.

Objective: To characterize the frequency of new diagnoses, patterns of health care utilization, rates of hematopoietic stem cell transplantation (HSCT), and mortality in pediatric patients with PIDDs.

Methods: A retrospective cohort analysis of the Pediatric Health Information System database from 2004 to 2018 for pediatric inpatients with an International Classification of Diseases, Ninth and 10th Revisions (ICD-9/ICD-10). code associated with PIDD.

Results: A total of 17,234 patients with a PIDD were hospitalized from 2004 to 2018. There were 2.8 new PIDD diagnoses and 6.3 PIDD hospitalizations per 1,000 discharges; these metrics were unchanged during the study period. The number of new diagnoses for B-cell and antibody defects significantly increased over time. The number of new PIDD diagnoses significantly increased in adolescents or adults and decreased in infants. T-cell disorders had the highest number of intensive care unit admissions. There were 747 PIDD patients who underwent HSCT; complications of HSCT significantly decreased over time. Mortality rates significantly decreased in all PIDD patients and in patients receiving HSCT.

Conclusions: The total hospitalizations and incidence of PIDDs within the hospitalized pediatric population were unchanged. There were significant changes in the class of PIDD diagnosed, the age at diagnosis, and health care utilization metrics. Mortality significantly decreased over time within the PIDD cohort.

Keywords: Hematopoietic stem cell transplant; Mortality; Pediatrics; Primary immunodeficiency.

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Conflict of interest statement

Conflicts of interest: The authors declare that they have no relevant conflicts of interest.

Figures

FIGURE 1.
FIGURE 1.
Incidence of PIDD diagnoses by class and age. (A) Hospitalizations and new diagnoses for PIDDs per 1,000 hospital discharges in the PHIS database. (B) New diagnoses per class of PIDDs. (C) New diagnoses of PIDDs per year. (D) Number of new diagnoses of PIDDs per year for various American Acadamey of Pediarics age groups. *P < .01; †P <.005; ‡P < .05 by linear regression. Comp, Complement disorders.
FIGURE 2.
FIGURE 2.
Health care utilization of PIDD patients. (A) Number of ICU admissions by PIDD diagnosis class. (B) ICU admissions by PIDD class annually. (C) Billed charges per PIDD class. (D) Billed charges by PIDD class annually. *P < .005; †P < .0005 by linear regression. Comp: Complement disorders.
FIGURE 3.
FIGURE 3.
HSCT in PIDD patients. (A) Number of HSCTs performed by PIDD class. (B) HSCT by PIDD class annually. (C) Age at HSCT by year. (D) Age at HSCT per PIDD class annually. (E) Median length of stay for HSCT patients. B, D, E: *P < .05 by linear regression. Comp, Complement disorders.
FIGURE 4.
FIGURE 4.
HSCT complications in PIDD patients. (A) Number of PIDD patients with individual complications post-HSCT. (B) Linear regression of rate of adenovirus, bacteremia, and candidiasis in PIDD patients receiving HSCT. The CMV, GVHD, central line infections, Epstein-Barr virus (EBV), aspergillosis, and veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) rates were unchanged. (C) Rates of complications per PIDD class. C: *P < .05; ‡P < .01 by χ2 analysis.
FIGURE 5.
FIGURE 5.
Mortality in PIDD patients. (A) Linear regression of mortality rates in PIDD patients. (B, C) Mortality number and mortality rate by PIDD class. (D) Mortality rate by PIDD class per year. D: *P < .05; †P < .0005; ‡P < .005 by linear regression. (E) Linear regression of mortality rates in PIDD patients receiving HSCT. (F, G) Mortality number and mortality rate in patients receiving HSCT by PIDD class.
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References

    1. International Union of Immunological Societies Expert Committee on Primary ImmunodeficienciesNotarangelo LD, Fischer A, Geha RS, Casanova J-L, Chapel H, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 2009;124:1161–78. - PMC - PubMed
    1. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2020;40:24–64. - PMC - PubMed
    1. Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, et al. Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing. J Allergy Clin Immunol 2021;147:734–7. - PubMed
    1. Conley ME, Casanova J-L. Discovery of single-gene inborn errors of immunity by next generation sequencing. Curr Opin Immunol 2014;30:17–23. - PMC - PubMed
    1. Picard C, Fischer A. Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies. Eur J Immunol 2014;44:2854–61. - PubMed

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