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Combined Immunodeficiencies

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Cellular Primary Immunodeficiencies

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

Abstract

Combined immunodeficiencies (CID) are a heterogeneous and expanding group of primary immunodeficiencies associated with T and B cell impaired immunity due to several genetic variants. In contrast to severe combined immunodeficiencies (SCID), CID are typically milder diseases and can have a delayed onset. Patients with CID may present with recurrent, often severe, viral, bacterial, mycobacterial, fungal, and protozoan infections, mainly affecting the respiratory and gastrointestinal tract, immune dysregulation (autoimmunity, inflammatory bowel disease, severe dermatitis, lymphoproliferation, granulomas, vasculitis), and malignancies. On laboratory evaluation, lymphocyte numbers and phenotype and humoral assessment can help to orientate the diagnosis. Genetic analysis is essential for CID classification. Most CID have an autosomal recessive mode of inheritance. The prognosis varies according to the disease and the time of diagnosis. The treatment of patients with CID is individualized, but generally it comprises supportive therapy (immunoglobulin replacement therapy and antimicrobial treatment or prophylaxis), as well as allogenic hematopoietic stem cell transplantation in selected cases.

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

    Francesco Liotta & Lorenzo Salvati

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  1. Francesco Liotta
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  2. Lorenzo Salvati
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  1. Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy

    Mario Milco D'Elios

  2. Department of Life Sciences, University of Siena, Siena, Italy

    Cosima Tatiana Baldari

  3. Department of Experimental and Clinical Medicine, University of Florence, Firenze, Florence, Italy

    Francesco Annunziato

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Liotta, F., Salvati, L. (2021). Combined Immunodeficiencies. In: D'Elios, M.M., Baldari, C.T., Annunziato, F. (eds) Cellular Primary Immunodeficiencies. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-70107-9_6

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