Abstract
Primary immunodeficiencies (PIDs) are conditions caused by molecular defects in the genes required for normal immune function. PIDs are rare, with a prevalence of approximately 1 in 25,000. Though much remains to be explored in the field of PIDs, over 185 distinct defects have been described. Infections are generally the most pronounced feature of PIDs. However, PIDs have many non-infectious sequelae also. Cutaneous involvement, infectious and non-infectious, is prominent in many cases. In fact, cutaneous manifestations precede immunologic diagnosis in 79 % of PID patients.
PIDs are subject to wide clinical, immunological, and genetic heterogeneity. Different mutations in the same gene may yield variable phenotypes. This chapter will detail the clinical manifestations, genetics and pathophysiology, diagnosis, and management of selected PIDs with a special focus on those with historically prominent cutaneous findings.
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Suggested Reading
Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies expert committee for primary immunodeficiency. Front Immunol. 2011;2:54.
Berron-Ruiz A, Berron-Perez R, Ruiz-Maldonado R. Cutaneous markers of primary immunodeficiency diseases in children. Pediatr Dermatol. 2000;17(2):91–6.
Bolognia JL, Jorizzo JL, Rapini RP. Dermatology. Philadelphia: Elsevier; 2008.
Chiam LY, Verhagen MM, Haraldsson A, et al. Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation? Dermatology. 2011;223(1):13–9.
Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol. 2012;148(1):79–84.
Davies EG, Thrasher AJ. Update on the hyper immunoglobulin M syndromes. Br J Haematol. 2010;149(2):167–80.
Dohil M, Prendiville JS, Crawford RI, Speert DP. Cutaneous manifestations of chronic granulomatous disease: a report of four cases and review of the literature. J Am Acad Dermatol. 1997;36(6):899–907.
Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics. 2003;111(5 Pt 1):e622–7.
Gathmann B, Binder N, Ehl S, Kindle G, ESID Registry Working Party. The European internet-based patient and research database for primary immunodeficiencies: update 2011. Clin Exp Immunol. 2012;167(3):479–91.
Greenberger S, Berkun Y, Ben-Zeev B, Levi YB, Barziliai A, Nissenkorn A. Dermatologic manifestations of ataxia-telangiectasia syndrome. J Am Acad Dermatol. 2013;68(6):932–6.
Haas N, Kuster W, Zuberbier T, Henz BM. Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred. Br J Dermatol. 2004;151(1):99–104.
Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014;46(2):112–9.
Neven B, Prieur A-M. Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheum. 2008;4(9):481–9.
Olaiwan A, Chandesris MO, Fraitag S, Lortholary O, Hermine O, Fischer A, et al. Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis. J Am Acad Dermatol. 2011;65(6):1167–72.
Paradela S, Sacristan F, Almagro M, Prieto VG, Kantrow SM, Fonseca E. Necrotizing vasculitis with a polyarteritis nodosa-like pattern and selective immunoglobulin a deficiency: case report and review of the literature. J Cutan Pathol. 2008;35(9):871–5.
Shiflett SL, Kaplan J, Ward DM. Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res. 2002;15(4):251–7.
Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994;125(6 Pt 1):876–85.
Thyss A, el Baze P, Lefebvre JC, Schneider M, Ortonne JP. Dermatomyositis-like syndrome in X-linked hypogammaglobulinemia. Case-report and review of the literature. Acta Derm Venereol. 1990;70(4):309–13.
Weary PE, Bender AS. Chediak-Higashi syndrome with severe cutaneous involvement: occurrence in two brothers 14 and 15 years of age. Arch Intern Med. 1967;119(4):381–6.
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Klimas, N., Vandergriff, T.W. (2014). Skin Disorders in Patients with Primary Immunodeficiencies. In: Hall, J. (eds) Skin Diseases in the Immunocompromised. Springer, London. https://doi.org/10.1007/978-1-4471-6479-1_3
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DOI: https://doi.org/10.1007/978-1-4471-6479-1_3
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