Abstract
The term primary immunodeficiency (PID) comprises hereditary disorders of the immune response that are characterized by an increased susceptibility to disease. This can manifest as repeated relapsing and persistent disease courses, but also as opportunistic infections. These diseases are important for the dermatologist because about half of the patients show skin changes. Secondary immunodeficiencies (SIDs) must be distinguished from these PIDs (e.g., HIV, drug immunosuppression, enteropathies with severe protein loss, malnutrition). This chapter gives an overview of the numerous PIDs and their associated skin changes. We provide a table, which enables the reader to find the possible diseases and the associated gene defects based on the skin manifestations of the suspected PIDs.
The chapter is based on the article Ettinger et al., Skin signs of primary immunodeficiencies: how to find the genes to check. British Journal of Dermatology. Permission is granted by John Wiley and Sons.
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Further Literature
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Bousfiha A, Jeddane L, Al-Herz W et al. (2015) The 2015 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol 35:727–7738
Braun-Falco M, Ruzicka T (2011) Hautbeteiligung bei autoinflammatorischen Syndromen. J Deutsch Dermatol Ges 9:232–246
Ettinger M, Schreml J, Wirsching K, Berneburg M, Schreml S (2018) Skin signs of primary immunodeficiencies: how to find the genes to check. Br J Dermatol 178:335–349
Lehman H (2014) Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol 46:112–119
Picard C, Al-Herz W, Bousfiha A et al (2015) Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol 35:696–726
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Pichard DC, Freeman AF, Cowen EW (2015b) Primary immunodeficiency update: part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations. J Am Acad Dermatol 73:367–381
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Schreml, S., Ettinger, M., Schreml, J., Berneburg, M. (2021). Hereditary Immunodeficiency Diseases: Skin Signs. In: Plewig, G., French, L., Ruzicka, T., Kaufmann, R., Hertl, M. (eds) Braun-Falco´s Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-58713-3_62-1
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DOI: https://doi.org/10.1007/978-3-662-58713-3_62-1
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