The Hyperimmunoglobulinemia E Syndromes: A Literature Review

Authors

  • Slavica Hristomanova Institute of Immunobiology and Human Genetics, Faculty of Medicine, Ss Cyril and Methodius University of Skopje, Skopje
  • Mirko Spiroski Institute of Immunobiology and Human Genetics, Faculty of Medicine, Ss Cyril and Methodius University of Skopje, Skopje

DOI:

https://doi.org/10.3889/oamjms.2013.024

Keywords:

hyper-immunoglobulin E syndromes (HIES), dominant form (AD-HIES), recessive form (AR-HIES), STAT3, review article.

Abstract

The hyper-immunoglobulin E (IgE) syndromes (HIES) are primary immunodeficiencies characterized by the recurrent staphylococcal abscesses, recurrent pneumonia and highly elevated serum IgE levels. There are two forms of HIES: a dominant form (AD-HIES) and a recessive form (AR-HIES). AD form of HIES is caused by mutations in STAT3 and the AR form is caused by mutations in DOCK8 and TYK2. These syndromes have different clinical presentations and outcomes. AD-HIES is a multisystem disorder that includes abnormalities of the skin, lungs, musculo-skeletal system and dental system. In contrast, these symptoms in patients with AR-HIES are missing. AR-HIES patients have severe viral infections and may develop neurological complications. This review article discusses the clinical presentation and laboratory findings in both forms of HIES, as well as the establishment of diagnose, inheritance, molecular genetics and immunological abnormalities of HIES.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

References

McKusick VA. Mendelian inheritance in man. Catalogs of human genes and genetic disorders. 12th ed. Baltimore: Johns Hopkins University Press, 1998.

Davis SD, Schaller J, Wedgwood RJ. Job’s syndrome: recurrent, “cold,†staphylococcal abscesses. Lancet. 1966;1:1013-5.

White LR, Iannetta A, Kaplan EL, Davis SD, Wedgwood RJ. Leucocytes in Job's syndrome. Lancet. 1969;;1(7595):630.

Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972;49:59-70.

Donabedian H, Gallin JI. The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature. Medicine (Baltimore). 1983;62(4):195-208.

Dreskin SC, Goldsmith PK, Gallin JI. Immunoglobulins in the hyperimmunoglobulin E and recurrent infection (Job's) syndrome. Deficiency of anti-Staphylococcus aureus immunoglobulin A. J Clin Invest. 1985;75(1):26-34.

Borges WG, Hensley T, Carey JC, Petrak BA, Hill HR. The face of Job. J Pediatr. 1998;133(2):303-5.

Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med. 1999;340(9):692-702.

Hill HR, Quie PG, Pabst HF, Ochs HD, Clark RA, Klebanoff SJ, Wedgwood RJ. Defect in neutrophil granulocyte chemotaxis in Job’s syndrome of recurrent ‘cold’ staphylococcal abscesses. Lancet. 1974;2:617–619.

Buckley RH, Becker WG. Abnormalities in the regulation of human IgE synthesis. Immunol Rev. 1978;41:288–314.

Del Prete G, Tiri A, Maggi E, De Carli M, Macchia D, Parronchi P, Rossi ME, Pietrogrande MC, Ricci M, Romagnani S.Defective in vitro production of gamma-interferon and tumor necrosis factor-alpha by circulating T cells from patients with the hyper-immunoglobulin E syndrome. J Clin Invest. 1989;84(6):1830-5.

Borges WG, Augustine NH, Hill HR. Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome. J Pediatr. 2000;136:176–180.

Netea MG, Schneeberger PM, de Vries E, Kullberg BJ, van der Meer JW, Koolen MI. Th1/Th2 cytokine imbalance in a family with hyper-IgE syndrome. Neth J Med. 2002;60:349–353.

Gudmundsson KO, Sigurjonsson OE, Gudmundsson S, Goldblatt D, Weemaes CM, Haraldsson A. Increased expression of interleukin-13 but not interleukin-4 in CD4+ cells from patients with the hyper-IgE syndrome. Clin Exp Immunol. 2002;128:532–537.

Ohga S, et al. Cytokine imbalance in hyper-IgE syndrome: reduced expression of transforming growth factor beta and interferon gamma genes in circulating activated T cells. Br J Haematol. 2003;121:324–331.

Ito R, et al. Selective insufficiency of IFNgamma secretion in patients with hyper-IgE syndrome. Allergy. 2003;58:329–336.

Wood PM, Fieschi C, Picard C, Ottenhoff TH, Casanova JL, Kumararatne DS.Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children. Eur J Pediatr. 2005;164(12):741-7.

Van Scoy RE, Hill HR, Ritts RE, Quie PG. Familial neutrophil chemotaxis defect, recurrent bacterial infections, mucocutaneous candidiasis, and hyperimmunoglobulinemia E. Ann Intern Med. 1975;82(6):766-71.

Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004;144(1):93-9.

Minegishi, Y., Saito, M., Morio, T., Watanabe, K., Agematsu, K., Tsuchiya, S., Takada, H., Hara, T., Kawamura, N., Ariga, T., Kaneko, H., Kondo, N., and 24 others. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 25: 745-755, 2006.

Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, Kawamura N, Ariga T, Pasic S, Stojkovic O, Metin A, Karasuyama H. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058-62.

Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007;357(16):1608-19.

Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361(21):2046-55.

Alsum Z, Hawwari A, Alsmadi O, Al-Hissi S, Borrero E, Abu-Staiteh A, Khalak HG, Wakil S, Eldali AM, Arnaout R, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, Al-Saud B, Al-Mousa H.Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty five patients. J Clin Immunol. 2013;33(1):55-67.

Chamlin SL, McCalmont TH, Cunningham BB, et al. Cutaneous manifestations of hyper-IgE syndrome in infants and children. J Pediatr. 2002; 141:572-575.

Eberting CL, Davis J, Puck JM, Holland SM. Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol. 2004; 140:1119-1125.

Grimbacher B, Schaffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradksy BH, Buckley RH, Cossu F, Espanol T, Garty BZ, Metamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999;65:735-44.

Buckley RH. The hyper IgE syndrome. Clin Rev Allergy Immunol. 2001; 20:139–154.

Freeman A, Kleiner D, Nadiminti H, Davis J, Quezado M, Anderson V, Puck JM, Holland SM. Causes of death in hyper IgE syndrome. J Allergy Clin Immunol. 2007;119:1234–1240.

Freeman AF, Davis J, Anderson VL, Barson W, Darnell DN, Puck JM, Holland SM. Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome. Pediatrics. 2006;118:e1271–e1275.

Hutto JO, Bryan CS, Greene FL, White CJ, Gallin JL. Cryptococcosis of the colon resembling Crohn's disease in a patient with the hyperimmunoglobulinemia E syndrome. Gastroenterology. 1988;94:808–812.

Jacobs DH, Macher AM, Handler R, Bennett JE, Collen MJ, Gallin JI. Esophageal cryptococcosis in a patient with the hyperimmunoglobulin E-recurrent infection (Job's) syndrome. Gastroenterology. 1984;87:201–203.

Leung DY, Key L, Steinberg JJ, Young MC, Von Deck M, Wilkinson R, Geha RS. Increased in vitro bone resorption by monocytes in the hyper¬immunoglobulin E syndrome. J Immunol. 1988;140:84-88.

Cohen-Solal M, Prieur AM, Prin L, Denne MA, Launay JM, Graulet AM, Brazier M, Griscelli C, de Vernejoul MC. Cytokine-mediated bone re¬sorption in patients with the hyperimmunoglobulin E syndrome. Clin Im¬munol Immunopathol. 1995; 76:75-81.

O’Connell AC, et al. Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000;89:177–185.

Smithwick EM, Finelt M, Pahwa S, Good RA, Naspitz CK, Mendes NF Kopersztyck S, Spira TJ, Nahmias AJ. Cranial synostosis in Job's syndrome (Letter). Lancet. 1978; I : 826.

Höger PH, Boltshauser E, Hitzig WH. Craniosynostosis in hyper-IgE-syndrome. Eur J Pediatr. 1985;144(4):414-7.

Freeman AF, Collura-Burke CJ, Patronas NJ, Ilcus LS, Darnell D, Davis J, Puck JM, Holland SM. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics. 2007;119(5):e1121-5.

Lee MW, Choi JH, Sung KJ, Moon KC, Koh JK. Extensive xanthelasma associated with anaplastic large cell lymphoma and hyperimmunoglobulin E syndrome. Int J Dermatol. 2003;42:944–946.

Crama N, Toolens AM, van der Meer JW, Cruysberg JR. Giant chalazia in the hyperimmunoglobulinemia E (hyper-IgE) syndrome. Eur J Ophthalmol. 2004;14:258–260.

Ling JC, Freeman AF, Gharib AM, Arai AE, Lederman RJ, Rosing DR, Holland SM. Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. Clin Immunol. 2007;122(3):255-8.

Gorin LJ, Jeha SC, Sullivan MP, Rosenblatt HM, Shearer WT. Burkitt's lymphoma developing in a 7-year-old boy with hyper-IgE syndrome. J Allergy Clin Immunol. 1989;83(1):5-10.

Leonard GD, Posadas E, Herrmann PC, Anderson VL, Jaffe ES, Holland SM, Wilson WH. Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. Leuk Lymphoma. 2004;45(12):2521-5.

Oztop I, Demirkan B, Tarhan O, Kayahan H, Yilmaz U, Kargi A, Alakavuklar M.The development of pulmonary adenocarcinoma in a patient with Job's syndrome, a rare immunodeficiency condition. Tumori. 2004;90(1):132-5.

Kilic SS, Hacimustafaoglu M, Boisson-Dupuis S, Kreins AY, Grant AV, Abel L, Casanova JL. A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatr. 2012;160(6):1055-7.

Hill, H. R., Quie, P. G. Raised serum-IgE levels and defective neutrophil chemotaxis in three children with eczema and recurrent bacterial infections. Lancet. 1974; 303: 183-187.

Grimbacher B, Holland SM, Puck JM: Hyper-IgE syndromes. Immunol Rev. 2005;203:244-250.

Erlewyn-Lajeunesse MD: Hyperimmunoglobulin-E syndrome with recurrent infection: a review current opinion and treatment. Pediatr Allergy Immunol. 2004;11:133-141.

Hristomanova S, Grunevska V, Balabanova-Stefanova M, Trajkov D, Petlichkovski A, Kirijas M, Djulejic E, Senev A, Spiroski M. Hyper IgE in a HIV Positive Patient - Case Report. Maced J Med Sci. 2011; 4(1):99-103.

Muhammed K: Hyper IgE syndrome: report of two cases with moderate elevation of IgE. Indian J Dermatol Venereol Leprol. 2005;71:112-114.

Buckley RH: Disorders of the IgE system. In Immunological Disorders in Infants and Children. Edited by: Stiehm ER. Philadelphia: Saunders, 1996:409-422.

Freeman AF, Holland SM: Clinical manifestations, etiology and pathogenesis of the hyper-IgE syndromes. Pediatr Res. 2009; 65:32-37.

Schopfer K, Baerlocher K, Price P, Krech U, Quie PG, Douglas SD. Staphylococcal IgE antibodies, hyperimmunoglobulinemia E and Staphylococcus aureus infections. N Engl J Med. 1979;300:835-8.

Schopfer K, Feldges A, Baerlocher K, Parisot RF, Wilhelm JA, Matter L:Systemic lupus erythematosus in Staphylococcus aureus hyperimmunoglobulinaemia E syndrome. Br Med J (Clin Res Ed). 1983;287:524-526.

Berger M, Kirkpatrick CH, Goldsmith PK, Gallin JI: IgE antibodies to Staphylococcus aureus and Candida albicans in patients with the syndrome of hyperimmunoglobulin E and recurrent infections. J Immunol. 1990; 125:2437-2443.

Walsh GA, Richards KL, Douglas SD, Blumenthal MN: Immunoglobulin E anti-Staphylococcus aureus antibodies in atopic patients. J Clin Microbiol. 1981; 13:1046-1048.

Su HC: Dedicator of cytokinesis 8 (DOCK8) deficiency. Curr Opin Allergy Clin Immunol. 2010; 10:515-520.

Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, Zhu Q, Jansson AF, Barboza J, Schimke LF, Leppert MF, Getz MM, Seger RA, Hill HR, Belohradsky BH, Torgerson TR, Ochs HD. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol. 2008;122(1):181-7.

Blum R, Geller G, Fish LA. Recurrent severe staphylococcal infections, eczematoid rash, extreme elevations of IgE, eosinophilia, and divergent chemotactic responses in two generations. J Pediatr. 1977;90(4):607-9.

Leung, D. Y. M., Geha, R. S. Clinical and immunologic aspects of the hyperimmunoglobulin E syndrome. Hemat Oncol Clin North Am. 1988; 2: 81-100.

Minegishi Y, Karasuyama H. Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency. Curr Opin Allergy Clin Immunol. 2007;7(6):506-9.

Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM. Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet Med. 1999;1(5):213-8.

Griffiths AJF, Miller JH, Suzuki DT, Lewontin RC, Gelbart WM (1993). "Chapter 5". An Introduction to Genetic Analysis (5th ed.). New York: W.H. Freeman and Company. ISBN 0-7167-2285-2.

Woellner C, Schäffer AA, Puck JM, Renner ED, Knebel C, Holland SM, Plebani A, Grimbacher B. The hyper IgE syndrome and mutations in TYK2. Immunity. 2007;26(5):535; author reply 536.

Milner JD, Brenchley JM, Laurence A, Freeman AF, Hill BJ, Elias KM, Kanno Y, Spalding C, Elloumi HZ, Paulson ML, Davis J, Hsu A, Asher AI, O’Shea J, Holland SM, Paul WE, Douek DC: Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature. 2008; 452:773-776.

Gaffen SL: An overview of IL-17 function and signaling. Cytokine. 2008;43:402-407.

Ochs HD, Oukka M, Torgerson TR: TH17 cells and regulatory T cells in primary immunodeficiency diseases. J Allergy Clin Immunol. 2009; 123:977-983.

Conti HR, Baker O, Freeman AF, Jang WS, Holland SM, Li RA, Edgerton M, Gaffen SL: New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. Mucosal Immunol. 2011; 4:448-455.

Rousset F, Garcia E, Defrance T, Péronne C, Vezzio N, Hsu DH, Kastelein R, Moore KW, Banchereau J. Interleukin 10 is a potent growth and differentiation factor for activated human B lymphocytes. Proc Natl Acad Sci U S A. 1992;89(5):1890-3.

Tanaka, S., K. Nakamura, N. Takahasi, and T. Suda. Role of RANKL in physiological and pathological bone resorption and therapeutics targeting the RANKL-RANK signaling system. Immunol Rev. 2005; 208: 30–49.

Takeda K, Clausen BE, Kaisho T, Tsujimura T, Terada N, Förster I, Akira S. Enhanced Th1 activity and development of chronic enterocolitis in mice devoid of Stat3 in macrophages and neutrophils. Immunity. 1999;10(1):39-49.

Ozaki K, Spolski R, Feng CG, Qi CF, Cheng J, Sher A, Morse HC 3rd, Liu C, Schwartzberg PL, Leonard WJ. A critical role for IL-21 in regulating immunoglobulin production. Science. 2002;298(5598):1630-4.

Al Khatib S, Keles S, Garcia-Lloret M, et al. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J Allergy Clin Immunol. 2009;124:342–348.

Downloads

Published

2013-12-15

How to Cite

1.
Hristomanova S, Spiroski M. The Hyperimmunoglobulinemia E Syndromes: A Literature Review. Open Access Maced J Med Sci [Internet]. 2013 Dec. 15 [cited 2021 Apr. 12];1(1):117-26. Available from: https://oamjms.eu/index.php/mjms/article/view/oamjms.2013.024

Issue

Section

F - Review Articles

Most read articles by the same author(s)

1 2 > >>