The Diagnosis of Hyper Immunoglobulin E Syndrome Based on Project Management
Hyperimmunoglobulin E Syndrome (HIES) is a complex primary immunodeficiency characterized by both immunologic and non-immunologic manifestations. High serum IgE level, eosinophilia, eczema, recurrent skin and lung infections constitute the immunologic profile of HIES, whereas characteristic facial appearance, scoliosis, retained primary teeth, joint hyperextensibility, bone fractures following minimal trauma and craniosynostosis are the main non-immunologic manifestations. The diagnosis of HIES cannot be made by routine immunologic tests. As the main characteristic laboratory abnormalities of this syndrome are highly elevated serum IgE levels and eosinophilia; both features have a broad spectrum of differential diagnosis. The purpose of this essay was presenting the best way for diagnosis management of HIES. Based on the genetic reports of patients of the Center for Chronic Immunodeficiency (CCI) as a single center experience, and applying project management (PM) in health care research projects, we sought the best way for a rapid diagnosis of HIES. The combination of project management principles with immunologic and genetic knowledge to better define the laboratory and clinical diagnosis lead to an improvement of the management of patients with HIES. These results are shown in one "Decision Tree" which is based on 342 genetic reports of the CCI during the past ten years. It is necessary to facilitate the diagnostic analysis of suspected HIES patients; applying project management in health care research projects provides a better and more accurate diagnosis eventually leading to a better patients' care. This Abstract was presented at 16th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2014), Prague, Czech Republic.
1. Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med 1999; 340(9):692-702.
2. Chamlin SL, McCalmont TH, Cunningham BB, Esterly NB, Lai CH, Mallory SB, et al. Cutaneous manifestations of hyper-IgE syndrome in infants and children. J Pediatr 2002;141(4):572-5.
3. Minegishi Y, Saito M. Cutaneous manifestations of Hyper IgE syndrome. Allergol Int 2012; 61(2):191-6.
4. O'Connell AC, Puck JM, Grimbacher B, Facchetti F, Majorana A, Gallin JI, et al. Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2000; 89(2):177-85.
5. Leonard GD, Posadas E, Herrmann PC, Anderson VL, Jaffe ES, Holland SM, et al. Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. Leuk Lymphoma 2004; 45(12):2521-5.
6. Buckley RH. The hyper-IgE syndrome. Clin Rev Allergy Immunol 2001; 20(1):139-54.
7. 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; 357(16):1608-19.
8. 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):1058-62.
9. Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 2004; 144(1):93-9.
10. 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.
11. Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H,Favreau AJ, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009; 361(21):2046-55.
12. Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Dis Markers 2010; 29(3-4):131-9.
13. Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol 2014;133(5):1410-9.
14. Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, Artac H, 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(2):342-8.
15. Grimbacher B, Holland SM, Puck JM. Hyper-IgE syndromes. Immunol Rev 2005; 203:244-50.
16. McDonald DR. TH17 deficiency in human disease. J Allergy Clin Immunol 2012; 129(6):1429-35.
17. Schimke LF, Sawalle-Belohradsky 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.
18. 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.
19. Frigenti E, Comninos D. The Practice of Project Management: a guide to the business-focused approach: Kogan Page Publishers; 2002.
20. Lewis JP. Fundamentals of project management: developing core competencies to help outperform the competition: AMACOM Div American Mgmt Assn; 2002.
21. Makar R. Value of Project Management in Health Care Research. PM World Today 2010; 12(8):1-7.
22. Bonilla FA, Bernstein IL, Khan DA, Ballas ZK, Chinen J, Frank MM, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005; 94(5 Suppl 1):S1-63.
23. Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K. The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency. Orphanet J Rare Dis 2011; 6:76.
24. Buckley RH, Becker WG. Abnormalities in the regulation of human IgE synthesis. Immunol Rev 1978; 41:288-314.
25. Erlewyn-Lajeunesse MD. Hyperimmunoglobulin-E syndrome with recurrent infection: a review of current opinion and treatment. Pediatr Allergy Immunol 2000;11(3):133-41.
26. Grimbacher B, Schaffer AA, Holland SM, Davis J, Gallin JI, Malech HL, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 1999; 65(3):735-44.
27. Woellner C, Gertz EM, Schaffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 2010; 125(2):424-32.
28. 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.
29. Barlogis V, Galambrun C, Chambost H, Lamoureux-Toth S, Petit P, Stephan JL, et al. Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency. J Allergy Clin Immunol 2011; 128(2):420-22.
30. Bittner TC, Pannicke U, Renner ED, Notheis G, Hoffmann F, Belohradsky BH, et al. Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. Klin Padiatr 2010; 222(6):351-5.
31. Gatz SA, Benninghoff U, Schutz C, Schulz A, Honig M, Pannicke U, et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplant 2011; 46(4):552-6.
32. McDonald DR, Massaad MJ, Johnston A, Keles S, Chatila T, Geha RS, et al. Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 2010; 126(6):1304-5.
33. Ohameje NU, Loveless JW, Saini SS. Atopic dermatitis or hyper-IgE syndrome? Allergy Asthma Proc 2006; 27(3):289-91.
34. Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, et al. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol 2013; 33(6):1078-87.
35. Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 2009; 124(6):1161-78.
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|Diagnosis Hyperimmunoglobulin E Syndrome Management Project|
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