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Defects in Intrinsic and Innate Immunity

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Cellular Primary Immunodeficiencies

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

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Abstract

The defects in intrinsic and innate immunity are a group of monogenic diseases in which there is a numeric and/or functional defect of the cellular components of innate immunity, not included in phagocyte defects or complement defects. It is a very diverse group of primary immunodeficiencies (PID) or inborn errors of immunity (IEI), both immunologically and clinically, but all share that (1) microbial susceptibility is usually very selective and from an early age (infant), and (2) commonly used immunological studies to discard a PID (lymphocyte studies, immunoglobulin dosage, protein vaccine responses) are usually normal; thus, innate immune PID’s diagnosis will require specific immunological tests.

These deficiencies are encompassed in group VI of PID classification of the International Union of Immunological Societies expert committee (now called Inborn Errors of Immunity Committee) (Tangye et al., J Clin Immunol 40:24-64; 2020). They represent 1.5% of all PIDs (Modell et al., Immunol Res 66:367–80; 2018). This group is artificially divided into four subgroups depending on the microorganism to which patients manifest susceptibility (pyogenic bacteria, mycobacteria, virus, or fungus). In this chapter, we will follow this phenotypic approach (Bousfiha et al., J Clin Immunol 38:129–43; 2018), which we believe is more useful for clinicians when approaching a patient with a suspected PID.

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Authors and Affiliations

  1. Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Institut de Recerca Sant Joan de Déu, Universitat de Barcelona, Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Hospital Sant Joan de Déu, Barcelona, Spain

    Laia Alsina & Àngela Deyà-Martínez

  2. Department of Immunology, Hospital Universitario de Gran Canaria Dr. Negrín, University Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain

    Carlos Rodriguez-Gallego

  3. Clinical Immunology and Primary Immunodeficiencies Unit, Fundació SAnt Joan de Déu, Institut de Recerca Sant Joan de Déu, Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Hospital Sant Joan de Déu, Barcelona, Spain

    Ana Esteve-Solé

  4. Immunology Department, CDB, Clinical Immunology Unit Hospital Sant Joan de Déu-Hospital Clínic Barcelona, Hospital Clinic, Barcelona, Spain

    Alexandru Vlagea

  5. Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, Hospital La Paz, Madrid, Spain

    Rebeca Pérez de Diego

  6. Division of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA

    Rubén Martínez-Barricarte

  7. Department of Pathology, Microbiology, and Immunology, Vanderbilt Center for Immunobiology, Vanderbilt Institute for Infection, Immunology, and Inflammation, Vanderbilt University Medical Center, Nashville, TN, USA

    Rubén Martínez-Barricarte

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  1. Laia Alsina
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  6. Rubén Martínez-Barricarte
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  7. Àngela Deyà-Martínez
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Correspondence to Laia Alsina .

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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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Alsina, L. et al. (2021). Defects in Intrinsic and Innate Immunity. 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_8

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