Hyperimmunoglobulinemia E (Job) Syndrome Questions & Answers

1. Dinauer MC. Disorders of neutrophil function: an overview. Methods Mol Biol. 2014. 1124:501-15. [QxMD MEDLINE Link].

2. Buckley RH. Disorders of the IgE system. Steigm ER, ed. Immunologic Disorders in Infants and Children. 4th ed. 1996. 413-422.

3. Minegishi Y, Saito M, Tsuchiya S, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007 Aug 30. 448(7157):1058-62. [QxMD MEDLINE Link].

4. Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18. 357(16):1608-19. [QxMD MEDLINE Link].

5. Minegishi Y, Karasuyama H. Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency. Curr Opin Allergy Clin Immunol. 2007 Dec. 7(6):506-9. [QxMD MEDLINE Link].

6. Minegishi Y, Saito M, Morio T, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006 Nov. 25(5):745-55. [QxMD MEDLINE Link].

7. Renner ED, Pawlita I, Hoffmann F, et al. No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome. J Clin Immunol. 2005 Jul. 25(4):321-8. [QxMD MEDLINE Link].

8. Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009 Nov 19. 361(21):2046-55. [QxMD MEDLINE Link].

9. Su HC, Jing H, Zhang Q. DOCK8 deficiency. Ann N Y Acad Sci. 2011 Dec. 1246:26-33. [QxMD MEDLINE Link].

10. Borges WG, Augustine NH, Hill HR. Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome. J Pediatr. 2000 Feb. 136(2):176-80. [QxMD MEDLINE Link].

11. Netea MG, Kullberg BJ, van der Meer JW. Severely impaired IL-12/IL-18/IFNgamma axis in patients with hyper IgE syndrome. Eur J Clin Invest. 2005 Nov. 35(11):718-21. [QxMD MEDLINE Link].

12. Casanova J-L, Newport M, Fischer A. Inherited interferon gamma receptor deficiency. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. 1999. 209-221.

13. Hawn TR, Ozinsky A, Williams LM, et al. Hyper-IgE syndrome is not associated with defects in several candidate toll-like receptor pathway genes. Hum Immunol. 2005 Jul. 66(7):842-7. [QxMD MEDLINE Link].

14. Renner ED, Puck JM, Holland SM, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004 Jan. 144(1):93-9. [QxMD MEDLINE Link].

15. Simon HU, Seger R. Hyper IgE syndrome associated with an IL-4-producing gamma/delta T-cell clone. J Allergy Clin Immunol. 2007. 119:246-8.

16. Renner ED, Rylaarsdam S, Anover-Sombke S, et al. 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. July. 122:181-187. [QxMD MEDLINE Link]. [Full Text].

17. Tangye SG, Cook MC, Fulcher DA. Insights into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. J Immunol. 2009 Jan 1. 182(1):21-8. [QxMD MEDLINE Link].

18. Wolach O, Kuijpers T, Ben-Ari J, Gavrieli R, Feinstein-Goren N, et al. Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients. J Clin Immunol. 2014 Feb. 34 (2):163-70. [QxMD MEDLINE Link].

19. Stepkowski SM, Chen W, Ross JA, Nagy ZS, Kirken RA. STAT3: an important regulator of multiple cytokine functions. Transplantation. 2008 May 27. 85(10):1372-7. [QxMD MEDLINE Link].

20. Milner JD, Brenchley JM, Laurence A, et al. Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature. 2008 Apr 10. 452(7188):773-6. [QxMD MEDLINE Link].

21. Speckmann C, Enders A, Woellner C, et al. Reduced memory B cells in patients with hyper IgE syndrome. Clin Immunol. 2008 Dec. 129(3):448-54. [QxMD MEDLINE Link].

22. Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G. 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 Dec. 124(6):1289-302.e4. [QxMD MEDLINE Link]. [Full Text].

23. Rezaei N, Hedayat M, Aghamohammadi A, Nichols KE. Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies. J Allergy Clin Immunol. 2011 Jun. 127(6):1329-41.e2; quiz 1342-3. [QxMD MEDLINE Link].

24. Jabara HH, McDonald DR, Janssen E, et al. DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol. 2012 May 13. 13(6):612-20. [QxMD MEDLINE Link]. [Full Text].

25. Alsum Z, Hawwari A, Alsmadi O, Al-Hissi S, Borrero E, Abu-Staiteh A, et al. Clinical, Immunological and Molecular Characterization of DOCK8 and DOCK8-like Deficient Patients: Single Center Experience of Twenty Five Patients. J Clin Immunol. 2012 Sep 12. [QxMD MEDLINE Link].

26. Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M. 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 Sep. 126(3):611-7.e1. [QxMD MEDLINE Link].

27. Dasouki M, Okonkwo KC, Ray A, et al. Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Clin Immunol. 2011 Nov. 141(2):128-32. [QxMD MEDLINE Link].

28. Lundin KE, Wang Q, Hamasy A, Marits P, Uzunel M, Wirta V, et al. Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report. BMC Pediatr. 2018 Aug 29. 18 (1):285. [QxMD MEDLINE Link].

29. Joshi AY, Iyer VN, Hagan JB, St Sauver JL, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009. 84(1):16-22. [QxMD MEDLINE Link]. [Full Text].

30. Freeman AF, Kleiner DE, Nadiminti H, et al. Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol. 2007 May. 119(5):1234-40. [QxMD MEDLINE Link].

31. Martin S, Wolters P, Billings N, Toledo-Tamula MA, Hammoud DA, et al. Neurobehavioral profiles in individuals with hyperimmunoglobulin E Syndrome (HIES) and brain white matter hyperintensities. J Clin Immunol. 2013 Oct. 33 (7):1175-84. [QxMD MEDLINE Link].

32. [Guideline] Leung DY, Nicklas RA, Li JT, et al. Disease management of atopic dermatitis: an updated practice parameter. Joint Task Force on Practice Parameters. Ann Allergy Asthma Immunol. 2004 Sep. 93(3 Suppl 2):S1-21. [QxMD MEDLINE Link]. [Full Text].

33. [Guideline] Hanifin JM, Cooper KD, Ho VC, et al. Guidelines of care for atopic dermatitis, developed in accordance with the American Academy of Dermatology (AAD)/American Academy of Dermatology Association "Administrative Regulations for Evidence-Based Clinical Practice Guidelines". J Am Acad Dermatol. 2004 Mar. 50(3):391-404. [QxMD MEDLINE Link]. [Full Text].

34. Ozcan E, Notarangelo LD, Geha RS. Primary immune deficiencies with aberrant IgE production. J Allergy Clin Immunol. 2008 Dec. 122(6):1054-62; quiz 1063-4. [QxMD MEDLINE Link].

35. Lu HY, Biggs CM, Blanchard-Rohner G, Fung SY, Sharma M, Turvey SE. Germline CBM-opathies: From immunodeficiency to atopy. J Allergy Clin Immunol. 2019 May. 143 (5):1661-1673. [QxMD MEDLINE Link].

36. [Guideline] Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol. 2005 May. 94(5 Suppl 1):S1-63. [QxMD MEDLINE Link]. [Full Text].

37. Kilic SS, Kilicbay F. Interferon-alpha treatment of molluscum contagiosum in a patient with hyperimmunoglobulin E syndrome. Pediatrics. 2006 Jun. 117(6):e1253-1255. [QxMD MEDLINE Link].

38. Bennett CL, Christie J, Ramsdell F, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001 Jan. 27(1):20-1. [QxMD MEDLINE Link].

39. Freeman AF, Davis J, Anderson VL, et al. Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome. Pediatrics. 2006 Oct. 118(4):e1271-5. [QxMD MEDLINE Link].

40. Grimbacher B, Holland SM, Puck JM. Hyper-IgE syndromes. Immunol Rev. 2005 Feb. 203:244-50. [QxMD MEDLINE Link].

41. Ling JC, Freeman AF, Gharib AM, et al. Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. Clin Immunol. 2007 Mar. 122(3):255-8. [QxMD MEDLINE Link].

42. Van der Meer JW, Weemaes CM, van Krieken JH, et al. Critical aneurysmal dilataion of the thoracic aorta in young adolescents with variant hyperimmunoglobulin e syndrome. J Intern Med. 2006. 259:615-8. [QxMD MEDLINE Link].

Harumi Jyonouchi, MD Faculty, Division of Allergy/Immunology and Infectious Diseases, Department of Pediatrics, Saint Peter's University Hospital

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Pediatric Research, Society for Mucosal Immunology

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David J Valacer, MD, MS Chief Medical Officer, Regor Therapeutics Group

David J Valacer, MD, MS is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American College of Allergy, Asthma and Immunology, American Thoracic Society, Asthma and Allergy Foundation of America, New York Academy of Sciences, New York Allergy & Asthma Society

Disclosure: Nothing to disclose.

Russell W Steele, MD Clinical Professor, Tulane University School of Medicine; Staff Physician, Ochsner Clinic Foundation

Russell W Steele, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Immunologists, American Pediatric Society, American Society for Microbiology, Infectious Diseases Society of America, Louisiana State Medical Society, Pediatric Infectious Diseases Society, Society for Pediatric Research, Southern Medical Association

Disclosure: Nothing to disclose.

James M Oleske, MD, MPH François-Xavier Bagnoud Professor of Pediatrics, Director, Division of Pulmonary, Allergy, Immunology and Infectious Diseases, Department of Pediatrics, Rutgers New Jersey Medical School; Professor, Department of Quantitative Methods, Rutgers New Jersey Medical School

James M Oleske, MD, MPH is a member of the following medical societies: Academy of Medicine of New Jersey, American Academy of Allergy Asthma and Immunology, American Academy of Hospice and Palliative Medicine, American Association of Public Health Physicians, American College of Preventive Medicine, American Pain Society, Infectious Diseases Society of America, Infectious Diseases Society of New Jersey, Medical Society of New Jersey, Pediatric Infectious Diseases Society, Arab Board of Family Medicine, American Academy of Pain Management, National Association of Pediatric Nurse Practitioners, Association of Clinical Researchers and Educators, American Academy of HIV Medicine, American Thoracic Society, American Academy of Pediatrics, American Public Health Association, American Society for Microbiology, Infectious Diseases Society of America, Pediatric Infectious Diseases Society

Disclosure: Nothing to disclose.

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