Abstract
Primary immunodeficiency diseases (PID) are a part of the growing field of inborn errors of immunity (IEI), sharing a raised susceptibility to infectious diseases and often associated to other features such as autoimmunity, autoinflammation, and lymphoproliferation and susceptibility to neoplastic disease and atopic diseases.
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Ochs HD, Hitzig WH (2012) History of primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol 12:577–587
Bruton OC (1952) Agammaglobulinemia. Pediatrics 9(6):722–728
Rosen FS, Kevy SV, Merler E, Janeway CA, Gitlin D (1961) Dysgammaglobulinemia and recurrent bacterial infection. Lancet 277(7179):700
Durandy A, Peron S, Fischer A (2006) Hyper-IgM syndromes. Curr Opin Rheumatol 18(4):369–376
Bacchetta R, Notarangelo LD (2013) Immunodeficiency with autoimmunity: beyond the paradox. Front Immunol 4:77. http://journal.frontiersin.org/article/10.3389/fimmu.2013.00077/abstract
Fritz JM, Lenardo MJ (2019) Development of immune checkpoint therapy for cancer. J Exp Med 216(6):1244–1254
Meyts I, Bosch B, Bolze A et al (2016) Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol 138(4):957–969
Bousfiha A, Jeddane L, Picard C et al (2020) Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol 40(1):66–81
Puel A (2020) Human inborn errors of immunity underlying superficial or invasive candidiasis. Hum Genet 139(6–7):1011–1022
Jouanguy E, Béziat V, Mogensen TH, Casanova J-L, Tangye SG, Zhang S-Y (2020) Human inborn errors of immunity to herpes viruses. Curr Opin Immunol 62:106–122
Rosain J, Kong X-F, Martinez-Barricarte R et al (2019) Mendelian susceptibility to mycobacterial disease: 2014-2018 update. Immunol Cell Biol 97(4):360–367
Boisson-Dupuis S, Ramirez-Alejo N, Li Z et al (2018) Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant. Sci Immunol 3(30):eaau8714
Barreiro LB, Quintana-Murci L (2020) Evolutionary and population (epi)genetics of immunity to infection. Hum Genet 139(6–7):723–732
Zhang Q, Bastard P, Liu Z et al (2020) Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 370:eabd4570
Ferrua F, Aiuti A (2017) Twenty-five years of gene therapy for ADA-SCID: from bubble babies to an approved drug. Hum Gene Ther 28(11):972–981
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Cosmi, L., Palterer, B., Annunziato, F. (2021). Primary 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_1
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DOI: https://doi.org/10.1007/978-3-030-70107-9_1
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