Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
Login Abbonamenti Pubblicazioni Carrello Registrazione Perché registrarsi? Contatti

Percorsi clinici

La diagnosi differenziale delle malattie che si presentano con IgE alte

Differential diagnosis of disease with elevated IgE levels

Gloria Patelli, Sara Farimbella, Manuela Cortesi, Raffaele Badolato

Clinica Pediatrica, Universitΰ di Brescia

Gennaio 2017 - pagg. 39 -43

Abstract
Elevated IgE levels (higher than 1500 UI) can be detected in multiple conditions observed in childhood, including atopic dermatitis, infectious diseases or primary immunodeficiencies. This article describes the case of a child who in the first year of life presented with pustulosis, failure to thrive, high IgE levels and eosinophilia. Immunological and genetic studies revealed that he was affected by hyper IgE syndrome, also known as Job syndrome. This is a genetic disorder that is inherited as autosomal dominant trait that shares many signs and symptoms with atopic dermatitis, as well as with several primary immunodeficiencies, such as IPEX, combined immunodeficiencies and Netherton syndrome.
Contenuto riservato

Per leggere l'articolo completo è necessario effettuare il login.

Non sei ancora registrato? Registrati

Bibliografia

di riferimento • Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000;25(2):141-2. • Dupuis-Girod S, Medioni J, Haddad E, 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. • Eberting CL, Davis J, Puck JM, Holland SM, Turner ML. Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol 2004;140(9):1119-25. • Geha RS, Jabara HH, Brodeur SR. The regulation of immunoglobulin E classswitch recombination. Nat Rev Immunol 2003;3(9):721-32. • Gould HJ, Sutton BJ. IgE in allergy and asthma today. Nat Rev Immunol 2008;883):205-17. • Grimbacher B, Schδffer AA, Holland SM, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 1999;65 (3):735-44. • Grimbacher B, Belohradsky BH, Holland SM. Immunoglobulin E in primary immunodeficiency diseases. Allergy 2002;57:995-1007. • Grimbacher B, Holland SM, Puck JM. Hyper- IgE syndromes. Immunol Rev 2005;203: 244-50. • Grunebaum E, Bates A, Roifman CM. Omenn syndrome is associated with mutations in DNA ligase IV. J Allergy Clin Immunol 2008;122(6):1219-20. • Hagl B, Heinz V, Schlesinger A, et al. Key findings to expedite the diagnosis of hyper- IgE syndromes in infants and young children. Pediatr Allergy Immunol 2015;27(2):177-84. • Hovnaian A. Netheron syndrome: skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res 2013;351(2):289- 300. • Joshi AY, Iyer VN, Boyce TG, Hagan JB, Park MA, Abraham RS. Elevated serum immunoglobulin E (IgE): when to suspect hyper- IgE syndrome. A 10 year pediatric tertiary care center experience. Allergy Asthma Proc 2009;30(1):23-7. • Kamali S, Kasapoglu E, Aktόrk F, et al. Eosinophilia and hyperimmunoglobulinemia E as the presenting manifestations of Wegener’s granulomatosis. Clin Rheumatol 2003;22(4- 5):333-5. • Markert ML, Devlin BH, Alexieff MJ, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 2007;109(10):4539-47. • Ochs HD, Thrasher AJ. The Wiskott- Aldrich syndrome. J Allergy Clin Immunol 2006;117 (4):725-38; quiz 739. • Ohameje NU, Loveless JW, Saini SS. Atopic dermatitis or hyper-IgE syndrome. Allergy Asthma Proc 2006;27(3):289-91. • Ozcan E, Notarangelo LD, Geha RS. Primary immune deficiencies with aberrant IgE production. J Allergy Clin Immunol 2008;122 (6):1054-62. • Renner ED, Puck JM, Holland SM, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 2004;144(1):93-9. • Saghafi S, Pourpak Z, Glocker C, et al. The diagnosis of hyper immunoglobulin e syndrome based on project management. Iran J Allergy Asthma Immunol 2015;14(2):126-32. • Schimke LF, Sawalle-Belohradsky J, Roesler J, et al. Diagnostic approach to the hyper- IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol 2010;126(3):611-7.e1. • Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, Xlinked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol 2007;120(4):744-50; quiz 751-2. • Villa A, Sobacchi C, Notarangelo LD, et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 2001;97(1):81-8. • Yasharpour M, Agarwal S, Jerome D, Yel L. Is It Hyper IgE Syndrome Or Something Else? MOJ Immunol 2014;1(2):00010. • Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B. An update on the hyper-IgE syndromes. Arthritis Res Ther 2012;14(6):228. • Zhang Q, Su HC. Hyperimmunoglobulin E syndrome in pediatrics. Curr Opin Pediatr 2011;23(6):653-8.

Corrispondenza: raffaele.badolato@unibs.it