Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media

Current Allergy and Asthma Reports

Volumn 18, Issue 10, 2018, Pages

  Wu, Jing ^a   Hong, Li ^a   Chen, Tong Xin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Clinical manifestation; Cutaneous manifestations; Different genetic etiologies; Hyper IgE syndrome; Infections; Otitis media

Indexed keywords

IMMUNOGLOBULIN E;

CLINICAL ASSESSMENT; CLINICAL FEATURE; DOCK8 GENE; GASTROINTESTINAL DISEASE; GENE; GENE MUTATION; HEALTH CARE ORGANIZATION; HEMATOLOGIC MALIGNANCY; HUMAN; HYPER IGE SYNDROME; IMMUNOGLOBULIN BLOOD LEVEL; LOWER RESPIRATORY TRACT INFECTION; NONHUMAN; OTITIS MEDIA; PGM3 GENE; PROTEIN DEFICIENCY; REVIEW; SKIN DISEASE; SPINK5 GENE; STAT3 GENE; TYK2 GENE; UPPER RESPIRATORY TRACT INFECTION; COMPLICATION; GENETICS; MUTATION; RESPIRATORY TRACT INFECTION;

GASTROINTESTINAL DISEASES; HUMANS; JOB SYNDROME; MUTATION; OTITIS MEDIA; RESPIRATORY TRACT INFECTIONS; SKIN DISEASES;

EID: 85051706348     PISSN: 15297322     EISSN: 15346315     Source Type: Journal    
DOI: 10.1007/s11882-018-0806-6     Document Type: Review

References (42)

1. Hashemi H, Mohebbi M, Mehravaran S, Mazloumi M, Jahanbaniardakani H, Abtahi SH. Hyperimmunoglobulin E syndrome: genetics, immunopathogenesis, clinical findings, and treatment modalities. J Res Med Sci. 2017;22(1):53
2. Davis SD, Schaller SJ, Wedgwood RJ. Job’s Syndrome: recurrent, "cold", staphylococcal abscesses. Lancet. 1966;287(7445):1013–5
3. Buckley R. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972;49(1):59–70
4. Wu J, Chen J, Tian ZQ, Zhang H, Gong RL, Chen TX, et al. Clinical manifestations and genetic analysis of 17 patients with autosomal dominant Hyper-IgE Syndrome in Mainland China: new reports and a literature review. J Clin Immunol. 2017;37(2):166–79
5. Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25(5):745–55
6. Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058
7. Engelhardt KR, Mcghee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol. 2009;124(6):1289–302.e4
8. •• Picard C, Bobby GH, Alherz W, Bousfiha A, Casanova JL, Chatila T, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018;38(1):96–128. COMMENT: This report details the categorization and listing of 354 inborn errors of immunity
9. Gernez Y, Tsuang A, Smith TD, Shahjehan K, Hui Y, Maglione PJ, et al. Hemoptysis in a patient with elevated immunoglobulin E. J Allergy Clin Immunol Pract. 2016;4(6):1054–8. 10.1016/j.jaip.2016.08.003
10. Eberting CL, Davis J, Puck JM, Holland SM, Turner ML. Dermatitis and the newborn rash of hyper-IgE syndrome.Digest of the World Core Medical Journals. Arch Dermatol. 2005;140(9):1119–25
11. Minegishi Y, Saito M. Cutaneous manifestations of Hyper IgE syndrome. Allergol Int. 2012;61(2):191–6. 10.2332/allergolint.12-RAI-0423
12. Schimke LF, Sawallebelohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, 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
13. Minegishi Y, Saito M. Cutaneous manifestations of Hyper IgE Syndrome. Allergol Int. 2002;141(4):572–5
14. Erlewyn-Lajeunesse MDS. Hyperimmunoglobulin-E syndrome with recurrent infection: a review of current opinion and treatment. Pediatr Allergy Immunol. 2010;11(3):133–41
15. • Pichard DC, Freeman AF, Cowen EW. Primary immunodeficiency update: Part I. Syndromes associated with eczematous dermatitis. J Am Acad Dermatol. 2015;73(3):365–6. COMMENT: Discusses clinical manifestations of HIES caused by STAT3, DOCK8 and PGM3, especially eczematous dermatitis
16. Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014;46(2):112–9. 10.1007/s12016-013-8377-8
17. Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, et al. Autosomal dominant STAT3 deficiency and Hyper-IgE Syndrome molecular, cellular, and clinical features from a French National Survey. Medicine. 2012;91(4):1–19
18. 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
19. 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
20. Sarri CA, Roussakischulze A, Vasilopoulos Y, Zafiriou E, Patsatsi A, Stamatis C, et al. Netherton syndrome: a genotype-phenotype review. Mol Diagn Ther. 2016;21(2):1–16
21. Mogensen TH. Primary immunodeficiencies with elevated IgE. Int Rev Immunol. 2015;35(1):39–56
22. Yang L, Fliegauf M, Grimbacher B. Hyper-IgE syndromes: reviewing PGM3 deficiency. Curr Opin Pediatr. 2014;26(6):697–703
23. Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402–12
24. Urschel S. Otitis media in children with congenital immunodeficiencies. Curr Allergy Asthma Rep. 2010;10(6):425
25. Wilson NW, Hogan MB. Otitis media as a presenting complaint in childhood immunodeficiency diseases. Curr Allergy Asthma Rep. 2008;8(6):519–24
26. • Costa-Carvalho BT, Grumach AS, Franco JL, Espinosa-Rosales FJ, Leiva LE, King A, et al. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice. J Clin Immunol. 2014;34(1):10–22. COMMENT: Summarizes the warning signs of PIDDs, including otitis media
27. Fleisher TA. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014;133(5):1400–9.e5
28. Stray-Pedersen A, Backe P, Sorte H, Mørkrid L, Chokshi N, Erichsen HC, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014;95(1):96–107
29. Su HC. Dedicator of cytokinesis 8 (DOCK8) deficiency. Curr Opin Allergy Clin Immunol. 2010;10(6):515–20
30. Chen XF, Wang WF, Zhang YD, Zhao W, Wu J, Chen TX. Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: report from Shanghai, China (2000–2015). Medicine. 2016;95(32):e4544
31. Urschel S, Kayikci L, Wintergerst U, Notheis G, Jansson A, Belohradsky BH. Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation. J Pediatr. 2009;154(6):888–94
32. Arora M, Bagi P, Strongin A, Heimall J, Zhao X, Lawrence MG, et al. Gastrointestinal manifestations of STAT3-deficient hyper-IgE syndrome. J Clin Immunol. 2017;37(7):1–6
33. Kilic SS, Hacimustafaoglu M, Boissondupuis S, Kreins AY, Grant AV, Abel L, et al. A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatr. 2012;160(6):1055–7
34. Freeman AF, Holland SM. Clinical manifestations of hyper IgE syndromes. Dis Markers. 2010;29(3-4):123
35. Sowerwine KJ, Holland SM, Freeman AF. Hyper-IgE syndrome update. Ann N Y Acad Sci. 2012;1250(1):25–32
36. Sanal O, Jing H, Ozgur T, Ayvaz D, Straussalbee DM, Ersoyevans S, et al. Additional diverse findings expand the clinical presentation of DOCK8 deficiency. J Clin Immunol. 2012;32(4):698–708
37. Yavuz H, Chee R. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clin Exp Immunol. 2010;159(3):238–44
38. Chandesris MO, Azarine A, Ong KT, Taleb S, Boutouyrie P, Mousseaux E, et al. Frequent and widespread vascular abnormalities in human STAT3 deficiency. Artery Res. 2011;5(4):163
39. Szczawinskapoplonyk A, Kycler Z, Pietrucha B, Heropolitanskapliszka E, Breborowicz A, Gerreth K. The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency. Orphanet J Rare Dis. 2011;6(1):1–11
40. Farmand S, Sundin M. Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care. Curr Opin Hematol. 2015;22(1):12–22
41. Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015;35(2):189
42. Sun JD, Linden KG. Netherton syndrome: a case report and review of the literature. Digest of the World Core Medical Journals. Int J Dermatol. 2010;45(6):693–7