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Humoral Primary Immunodeficiencies pp 325–346Cite as

Humoral Primary Immunodeficiency and Autoimmune and Inflammatory Manifestations

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Part of the book series: Rare Diseases of the Immune System ((RDIS))

Abstract

A recent extensive analysis encompassing data on more than 2000 patients with PID in French national register revealed that about a quarter of those patients suffer from at least one autoimmune and inflammatory (A/I) conditions. The manifestations spanned through all known A/I symptoms with autoimmune cytopenia being the most frequent one, followed in frequency by gastrointestinal disorders, skin ailments, and rheumatic conditions. About a third of the affected patients did experience more than one A/I manifestation. The relative risk of developing A/I manifestation was 3- to 14-fold higher in patients with PIDs compared to the normal population. The A/I manifestations occurred throughout the life; by the age of 50 years, 40% of the patients were affected.

The treatment of patients presenting with immunodeficiency as well as autoimmunity or chronic inflammation is challenging as it needs to preserve a balance between infection susceptibility and needs for immunosuppression and includes immunoglobulin substitution, steroids, methotrexate, hydroxychloroquine, ciclosporin A or mycophenolate mofetil, rituximab, abatacept, rapamycin, baricitinib, and only in very severe cases hematopoietic stem cell transplantation (HSCT) or gene therapy.

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Authors and Affiliations

  1. Faculty of Medicine, Centre for Paediatrics, Medical Center - University of Freiburg, Freiburg im Breisgau, Germany

    Aleš Janda

  2. Faculty of Medicine, Department of Rheumatology and Clinical Immunology and Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany

    Marta Rizzi

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  1. Aleš Janda
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  2. Marta Rizzi
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Correspondence to Aleš Janda .

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Editors and Affiliations

  1. Careggi Hospital, Department of Clinical and Experimental Medicine, University of Florence, Firenze, Italy

    Mario Milco D'Elios

  2. University Medical Centre Freiburg, Department of Rheumatology and Clinical Immunology and Center for Chronic Immunodeficiency, Freiburg, Germany

    Marta Rizzi

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Janda, A., Rizzi, M. (2019). Humoral Primary Immunodeficiency and Autoimmune and Inflammatory Manifestations. In: D'Elios, M., Rizzi, M. (eds) Humoral Primary Immunodeficiencies. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-319-91785-6_24

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