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Novel Developments in Primary Immunodeficiencies (PID)—a Rheumatological Perspective

  • Orphan Diseases (B Manger, Section Editor)
  • Published:
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Abstract

Purpose of Review

The purpose of this review is to provide an overview of the most relevant new disorders, disease entities, or disease phenotypes of primary immune deficiency disorders (PID) for the interested rheumatologist, using the new phenotypic classification by the IUIS (International Union of Immunological Societies) as practical guide.

Recent Findings

Newly recognized disorders of immune dysregulation with underlying mutations in genes pertaining to the function of regulatory T cells (e.g., CTLA-4, LRBA, or BACH2) are characterized by multiple autoimmune diseases—mostly autoimmune cytopenia—combined with an increased susceptibility to infections due to hypogammaglobulinemia. On the other hand, new mutations (e.g., in NF-kB1, PI3Kδ, PI3KR1, PKCδ) leading to the clinical picture of CVID (common variable immmune deficiency) have been shown to increasingly associate with autoimmune diseases.

Summary

The mutual association of autoimmune diseases with PID warrants increased awareness of immunodeficiencies when diagnosing autoimmune diseases with a possible need to initiate appropriate genetic tests.

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Authors and Affiliations

  1. Department of Rheumatology and Clinical Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands

    Helen Leavis

  2. Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich Collingasse 30, A-1140, Wien, Austria

    Jochen Zwerina & Ruth D. E. Fritsch-Stork

  3. Department of Internal Medicine 3, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlange-Nürnberg, Erlangen, Germany

    Bernhard Manger

  4. Sigmund Freud University, Vienna, Austria

    Ruth D. E. Fritsch-Stork

Authors
  1. Helen Leavis
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  2. Jochen Zwerina
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  3. Bernhard Manger
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  4. Ruth D. E. Fritsch-Stork
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Correspondence to Ruth D. E. Fritsch-Stork.

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Dr. Leavis reports grants and other from Shire and personal fees and other from Novartis, other from Sobi, outside the submitted work.

Dr. Fritsch-Stork has nothing to disclose.

Dr. Zwerina has nothing to disclose.

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Leavis, H., Zwerina, J., Manger, B. et al. Novel Developments in Primary Immunodeficiencies (PID)—a Rheumatological Perspective. Curr Rheumatol Rep 21, 55 (2019). https://doi.org/10.1007/s11926-019-0854-5

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  • DOI: https://doi.org/10.1007/s11926-019-0854-5

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