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High Inborn Errors of Immunity Risk in Patients with Granuloma

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Abstract

Objective

Granuloma etiology includes infections, vasculitis, chemicals, malignancies, lymphoproliferative disorders, and immunological diseases. We hypothesized that patients with granuloma have an underlying primary immunodeficiency disease (PIDD).

Patients and Methods

We retrospectively enrolled 82 patients with immunological evaluation among 294 biopsy-proven granuloma patients (0- to 20-year-old). At the same time frame, we followed up with 1910 patients in the same age group.

Results

Out of 82 patients, male/female ratio was 45/37. Median age at symptom onset was 5 years (28 days–17.4 years), age of granuloma at diagnosis was 8.6 years (36 days–19.4 years). Common symptoms at disease onset were fever (23.2%), lymphadenopathy (19.6%), abdominal pain (12.2%), and cough (12.2%). Granuloma was frequent in lymph nodes (26.8%), skin (19.5%), lung (13.4%), and bone (11%). Common infectious agents isolated were Mycobacterium spp. (23.2%) and EBV (4.9%).

We document PIDD in 76.8% (63/82) of patients. 49.4% (40/81) of immunologically evaluated granuloma patients had hypogammaglobulinemia. Granuloma rate in pediatric PIDD was 3.3%(63/1910).

Patients with multiple granulomas (n = 16) had a PIDD diagnosis. Lung involvement was three times more in PIDD. Brain involvement was only seen in PIDD. Fibroadipose tissue and liver involvement were more frequent in patients without documented PIDD and patients whose evaluation was not completed.

The mortality rate in PIDD with granuloma was 15.9%, whereas there was no mortality in patients without PIDD.

Conclusion

As documented here, even in a university hospital, the immunologic evaluation ratio is about one-third. We showed high PIDD frequency in children with granuloma, and higher mortality in PIDD with granuloma. Thus, an immunologic evaluation performed meticulously by immunologists is a must for accurate diagnosis and decision of individualized therapeutic options.

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Data Availability

On a reasonable request, the data supporting study’s findings are available from the corresponding author.

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Acknowledgements

The authors thank the patient’s family and all the medical teams involved for their cooperation.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey

    Merve Süleyman, Oğuzhan Serin & Büşra Koçali

  2. Department of Pediatrics, Hacettepe University Medical School, Section of Pediatric Pathology, Ankara, Turkey

    Diclehan Orhan

  3. Department of Pediatrics, Division of Pediatric Pulmonology, Hacettepe University Medical School, Ankara, Turkey

    Elmas Ebru Yalçın, Uğur Özçelik, Nural Kiper & Deniz Dogru

  4. Department of Pediatric Infectious Diseases, Hacettepe University Medical School, Ankara, Turkey

    Mehmet Ceyhan

  5. Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey

    İlhan Tezcan & Deniz Çağdaş

  6. Institute of Child Health, Department of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey

    İlhan Tezcan & Deniz Çağdaş

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  1. Merve Süleyman
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Contributions

MS collected the data and participated in the review of the files, data generation, entry, and analysis, and wrote the manuscript. OS collected the data and participated in the review of the files, data generation, entry and analysis. BK collected the data and participated in the review of files and data generation. DO, MC, EEY, UÖ, NK, İT, and DDE contributed to patient screening, collection of the data, data generation, data analysis, and interpretation of the results. DC planned the study; contributed to patient screening, collection of the data, data generation, data analysis, and interpretation of the results; and wrote the manuscript with MS. All of the authors reviewed it critically for important intellectual content and agreed to be accountable for all aspects of the work related to its accuracy or integrity.

Corresponding author

Correspondence to Deniz Çağdaş.

Ethics declarations

Ethics Approval

Ethics committee approval was received for this study from the Hacettepe University Non-Invasive Clinical Trials Ethics Committee (Approval number: GO 21/16, 2021). Research was conducted ethically in accordance with the World Medical Association Declaration of Helsinki.

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Informed consent was taken from all patients and/or their parents as well.

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All patients and/or their parents signed informed consent regarding publishing their data.

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The authors declare no competing interests.

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Süleyman, M., Serin, O., Koçali, B. et al. High Inborn Errors of Immunity Risk in Patients with Granuloma. J Clin Immunol 42, 1795–1809 (2022). https://doi.org/10.1007/s10875-022-01342-1

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  • DOI: https://doi.org/10.1007/s10875-022-01342-1

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