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Lymphoproliferative Disease in CVID: a Report of Types and Frequencies from a US Patient Registry

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Journal of Clinical Immunology Aims and scope Submit manuscript

Abstract

Purpose

Lymphoproliferative disease in common variable immunodeficiency disease (CVID) is heterogeneous in pathogenesis and ranges from non-malignant lymphoid hyperplasia to lymphoma.

Methods

The United States Immunodeficiency Network (USIDNET) patient registry was queried for lymphoproliferative diseases reported in CVID patients. Diagnoses included as possible manifestations of lymphoproliferation included lymphadenopathy, lymphoid hyperplasia, lymphocytic inflammation, lymphocytosis, and gammopathy.

Results

Among 1091 CVID patients, lymphoproliferative conditions were reported in 17.2% (N = 188). These conditions included lymphadenopathy (N = 192, 12.3%), lymphoid hyperplasia or lymphocytic inflammation (N = 50, 4.6%), lymphocytosis (N = 3, 0.3%), and gammopathies (N = 3, 0.3%). Of the 188 patients with lymphoproliferative conditions, 15 (8%) also had a diagnosis of lymphoma, while the remaining 173 (92%) did not. Nine (4.8%) had a diagnosis of non-lymphomatous malignancy including basal cell carcinoma (N = 3, 1.6%), thyroid carcinoma (N = 2, 1.1%), gynecologic cancer (N = 2, 1.1%), testicular cancer (N = 1), and vocal cord carcinoma (N = 1). CVID patients with lymphoma were older than patients with lymphoproliferative disease who did not have a diagnosis of lymphoma at the time of analysis (median age 49 vs. 35 years, p = 0.005). CVID patients with lymphoproliferative disease had 2.5 times higher odds of having chronic lung disease compared with those with lymphoma (OR = 0.4, p = 0.049). There were no significant differences in the frequency of autoimmune, gastrointestinal, hepatic, or granulomatous disease between these populations.

Conclusions

While CVID patients are at increased risk for lymphoma, lymphoproliferation may be observed in the absence of a concurrent hematologic or solid tumor malignancy.

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Abbreviations

CVID:

Common variable immunodeficiency

Ig:

Immunoglobulin

PIDD:

Primary immunodeficiency disease

SD:

Standard deviation

TACI:

Transmembrane activator and calcium-modulating cyclophilin ligand interactor

USIDNET:

United States Immunodeficiency Network

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Acknowledgments

We acknowledge Hannah Wright (USIDNET Registry Manager) and Marla Goldsmith (Former USIDNET Registry Manager) for their expertise in registry data management and for their assistance in obtaining and analyzing registry data.

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Authors and Affiliations

  1. Massachusetts General Hospital, 55 Fruit St, Bulfinch 165, Boston, MA, 02114, USA

    Elizabeth Yakaboski

  2. Ann and Robert H Lurie Children’s Hospital of Chicago, Chicago, IL, USA

    Ramsay L. Fuleihan

  3. Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Kathleen E. Sullivan

  4. Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Charlotte Cunningham-Rundles

  5. Weill Cornell Medicine, New York, NY, USA

    Elizabeth Feuille

Authors
  1. Elizabeth Yakaboski
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  2. Ramsay L. Fuleihan
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  3. Kathleen E. Sullivan
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  4. Charlotte Cunningham-Rundles
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  5. Elizabeth Feuille
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Contributions

Each author made substantial contributions to study concept and design, helped with data interpretation, drafted the article or reviewed or critically, and gave final approval of the version to be published. Dr. Cunningham-Rundles, Dr. Fuleihan, and Dr. Sullivan contributed a significant portion of the CVID patients to the USIDNET registry that were analyzed in this study. Dr. Yakaboski and Dr. Feuille carried out data analysis. Authors collectively have personally written 100% of the manuscript.

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Correspondence to Elizabeth Yakaboski.

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The authors declare that they have no conflict of interest.

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Yakaboski, E., Fuleihan, R.L., Sullivan, K.E. et al. Lymphoproliferative Disease in CVID: a Report of Types and Frequencies from a US Patient Registry. J Clin Immunol 40, 524–530 (2020). https://doi.org/10.1007/s10875-020-00769-8

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  • DOI: https://doi.org/10.1007/s10875-020-00769-8

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