Humoral Primary Immunodeficiency and Autoimmune and Inflammatory Manifestations

  • Aleš JandaEmail author
  • Marta Rizzi
Part of the Rare Diseases of the Immune System book series (RDIS)


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.


Autoimmunity Inflammation Humoral primary immune deficiency Antibody deficiency Therapy 


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Authors and Affiliations

  1. 1.Faculty of Medicine, Centre for PaediatricsMedical Center - University of FreiburgFreiburg im BreisgauGermany
  2. 2.Faculty of Medicine, Department of Rheumatology and Clinical Immunology and Center for Chronic ImmunodeficiencyMedical Center-University of FreiburgFreiburg im BreisgauGermany

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