A Review on Hyper-IgE Syndromes, Clinical Manifestations, Diagnosis and Therapeutic Approaches
Abstract
Hyper IgE syndromes are groups of primary immunodeficiency diseases which present with a series of symptoms including recurrent infections accompanied by elevated serum IgE level and some atopic features. Both autosomal dominant and recessive mutations may cause hyper IgE syndrome. The autosomal dominant forms are mutations in signal transducer and activator of transcription3 (STAT3), ERBB2 and CARD11. The recessive forms are mutations in dedicator of cytokinesis8 (DOCK8) , phosphoglucomutase3 (PGM3) , thyrosin kinase2 (TYK2) and interleukin-6 ST. There are some features that help distinguish among different types of hyper IgE syndrome. In autosomal dominant form, connective tissue, skeletal and vascular abnormalities are prominent. In autosomal recessive form, viral infections, malignancies and neurological disorders are more prominent. The definite diagnosis is made by mutation analysis.
1. Al‐Shaikhly T, Ochs HD. Hyper IgE syndromes: clinical and molecular characteristics. Immunology and cell biology. 2019;97(4):368-79.
2. Zhang Q, Boisson B, Béziat V, Puel A, Casanova J-L. Human hyper-IgE syndrome: singular or plural? Mammalian genome. 2018;29(7-8):603-17.
3. Davis S, Schaller J, Wedgwood R, Harvard M. Job's syndrome: recurrent," cold", staphylococcal abscesses. The Lancet. 1966;287(7445):1013-5.
4. Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. New England Journal of Medicine. 2007;357(16):1608-19.
5. 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.
6. Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, et al. Germline hypomorphic CARD11 mutations in severe atopic disease. Nature genetics. 2017;49(8):1192.
7. Lyons J, Liu Y, Ma C, Yu X, O’connell M, Lawrence M, et al. ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans. Journal of Experimental Medicine. 2017;214(3):669-80.
8. Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al. Combined immunodeficiency associated with DOCK8 mutations. New England Journal of Medicine. 2009;361(21):2046-55.
9. Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. Journal of Allergy and Clinical Immunology. 2014:133(5):1400-9. e5.
10. Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. HyperIgE syndrome with recurrent infections—an autosomal dominant multisystem disorder. New England Journal of Medicine. 1999;340(9):692-702.
11. Freeman A, Domingo D, Holland S. Hyper IgE (Job’s) syndrome: a primary immune deficiency with oral manifestations. Oral diseases. 2009;15(1):2-7.
12. Ponsford MJ, Klocperk A, Pulvirenti F, Dalm VA, Milota T, Cinetto F, et al. Hyper‐IgE in the allergy clinic––when is it primary immunodeficiency? Allergy. 2018;73(11):2122- 36.
13. Bergerson JR, Freeman AF. An update on syndromes with a hyper-IgE phenotype. Immunology and Allergy Clinics. 2019;39(1):49- 61.
14. Santana PRP, Medeiros AK, Barbisan CC, Gomes ACP, Marchiori E. Hyperimmunoglobulin E syndrome (Job syndrome): chest CT findings. Jornal Brasileiro de Pneumologia. 2018(AHEAD):0-.
15. Benninghoff U, Cattaneo F, Aiuti A, Flores‐ D’Arcais A, Gelmetti C, Viscardi M, et al. Clinical improvement and normalized Th1 cytokine profile in early and long‐term interferon‐α treatment in a suspected case of hyper‐IgE syndrome. Pediatric Allergy and Immunology. 2008;19(6):564-8.
16. Heimall J, Freeman A, Holland SM. Pathogenesis of hyper IgE syndrome. Clinical reviews in allergy & immunology. 2010;38(1):32- 8.
17. 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. Journal of Allergy and Clinical Immunology. 2009;124(6):1289-302. e4.
18. Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. The Journal of pediatrics. 2004;144(1):93-9.
19. Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Disease markers. 2010;29(3, 4):131-9.
20. Harada Y, Tanaka Y, Terasawa M, Pieczyk M, Habiro K, Katakai T, et al. DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses. Blood. 2012;119(19):4451-61.
21. Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, et al. DOCK8 functions as an adaptor that links TLRMyD88 signaling to B cell activation. Nature immunology. 2012;13(6):612.
22. Randall KL, Chan SS-Y, Ma CS, Fung I, Mei Y, Yabas M, et al. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. Journal of Experimental Medicine. 2011;208(11):2305-20.
23. Randall KL, Lambe T, Goodnow CC, Cornall RJ. The essential role of DOCK8 in humoral immunity. Disease markers. 2010:29(3-4):141-50.
24. Lambe T, Crawford G, Johnson AL, Crockford TL, Bouriez‐Jones T, Smyth AM, et al. DOCK8 is essential for T‐cell survival and the maintenance of CD8+ T‐cell memory. European journal of immunology. 2011;41(12):3423-35.
25. 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. Journal of clinical immunology. 2015;35(2):189- 98.
26. Ghaffari J, Ahanchian H, Zandieh F. Update on hyper IgE syndrome (HIES). Journal of Pediatrics Review. 2014;2(1):39-46.
27. Al-Herz W, Ragupathy R, Massaad MJ, Nanda A, Engelhardt KR, Grimbacher B, et al. Clinical, immunologic and genetic profiles of DOCK8- deficient patients in Kuwait. Clinical immunology. 2012;143(3):266-72.
28. Shah NN, Freeman AF, Parta M, Su H, Uzel G, Gea-Banacloche JC, et al. Haploidentical transplantation for DOCK8 deficiency. Am Soc Hematology; 2015.
29. Sanal O, Jing H, Ozgur T, Ayvaz D, StraussAlbee DM, Ersoy-Evans S, et al. Additional diverse findings expand the clinical presentation of DOCK8 deficiency. Journal of clinical immunology. 2012;32(4):698-708.
30. Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker E-O, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. Journal of Allergy and Clinical Immunology. 2010;125(2):424-32. e8.
31. 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. The Journal of pediatrics. 2012;160(6):1055-7.
32. Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Archives of dermatology. 2012;148(1):79-84.
33. Daan J, van Leeuwen EM, Jansen MH, van den Berg JM, Alders M, Vermont CL, et al. Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis. Clinical Immunology. 2013;149(1):25-31.
34. Romero RM, López AJ, Martín BX, Ortí MA, Carreras GdSM, Vaquero PM, et al., editors. Disseminated non-tuberculous mycobacterial infection in a patient with hyper-IgE syndrome. Anales de pediatria (Barcelona, Spain: 2003); 2013.
35. 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.
36. Su HC, Lenardo MJ. Combined immune deficiencies. Stiehm's Immune Deficiencies: Elsevier; 2014. p. 143-69.
37. 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. Journal of Allergy and Clinical Immunology. 2014;133(5):1410-9. e13.
38. Saghafi S, Pourpak Z, Glocker C, Nussbaumer F, Babamahmoodi A, Grimbacher B, et al. The diagnosis of hyper immunoglobulin e syndrome based on project management. Iranian Journal of Allergy, Asthma and Immunology. 2015:126-32.
39. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. The American Journal of Human Genetics. 2014;95(1):96-107.
40. Lyons JJ, Milner JD, Rosenzweig SD. Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology. Frontiers in pediatrics. 2015;3:54.
41. Antoniades K, Hatzistilianou M, Pitsavas G, Agouridaki C, Athanassiadou F. Co-existence of Dubowitz and hyper-IgE syndromes: a case report. European journal of pediatrics. 1996;155(5):390-2.
42. Boeck A, Gfatter R, Braun F, Fritz B. Pentasomy X and hyper IgE syndrome: coexistence of two distinct genetic disorders. European journal of pediatrics. 1999;158(9):723- 6.
43. Boeck A, Kosan C, Ciznar P, Kunz J. Saethre‐ Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene. American journal of medical genetics. 2001;104(1):53-6.
44. 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. Journal of Allergy and Clinical Immunology. 2015;136(2):402-12.
45. Caracciolo S, Moratto D, Giacomelli M, Negri S, Lougaris V, Porta F, et al. Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients. Clinical immunology. 2014;152(1-2):164-70.
46. Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B. An update on the hyper-IgE syndromes. Arthritis research & therapy. 2012;14(6):228.
47. Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, Artac H, et al. Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. Journal of Allergy and Clinical Immunology. 2009;124(2):342-8. e5.
48. Grimbacher B, Holland SM, Puck JM. Hyper‐ IgE syndromes. Immunological reviews. 2005;203(1):244-50.
49. McDonald DR. TH17 deficiency in human disease. Journal of Allergy and Clinical Immunology. 2012;129(6):1429-35.
50. 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 atopicdermatitis. Journal of allergy and clinical immunology. 2010;126(3):611-7. e1.
51. Kumánovics A, Wittwer CT, Pryor RJ, Augustine NH, Leppert MF, Carey JC, et al. Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. The Journal of Molecular Diagnostics. 2010;12(2):213-9.
52. Roxo Jr P, Torres L, Menezes U, Melo J. Lung function in hyper IgE syndrome. Pediatric pulmonology. 2013;48(1):81-4.
53. Sowerwine KJ, Holland SM, Freeman AF. Hyper-IgE syndrome update. Annals of the New York Academy of Sciences. 2012;1250:25.
54. Al-Zahrani D, Raddadi A, Massaad M, Keles S, Jabara HH, Chatila TA, et al. Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency. Clinical immunology. 2014;153(1):104-8.
55. Keles S, Jabara HH, Reisli I, McDonald DR, Barlan I, Hanna-Wakim R, et al. Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy. Journal of Allergy and Clinical Immunology. 2014;133(6):1753-5. e3.
56. Freeman AF, Holland SM. The hyper-IgE syndromes. Immunology and allergy clinics of North America. 2008;28(2):277-91.
57. Gatz S, Benninghoff U, Schütz C, Schulz A, Hönig M, Pannicke U, et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone marrow transplantation. 2011;46(4):552.
58. Metin A, Tavil B, Azık F, Azkur D, Ok‐ Bozkaya I, Kocabas C, et al. Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome. Pediatric transplantation. 2012;16(4):398-9.
59. Gennery A, Flood T, Abinun M, Cant A. Bone marrow transplantation does not correct the hyper IgE syndrome. Bone marrow transplantation. 2000;25(12):1303.
60. Deepa D, Kumar KA, Joshi CS, Kumar S, Pandey A. Fungal infection of gingiva in a patient with hyperimmunoglobulin-E (Job's) syndrome. Journal of Indian Society of Periodontology. 2012;16(2):256.
61. 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 Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2000;89(2):177-85.
62. Freeman AF, Avila EM, Shaw PA, Davis J, Hsu AP, Welch P, et al. Coronary artery abnormalities in Hyper-IgE syndrome. Journal of clinical immunology. 2011;31(3):338-45
2. Zhang Q, Boisson B, Béziat V, Puel A, Casanova J-L. Human hyper-IgE syndrome: singular or plural? Mammalian genome. 2018;29(7-8):603-17.
3. Davis S, Schaller J, Wedgwood R, Harvard M. Job's syndrome: recurrent," cold", staphylococcal abscesses. The Lancet. 1966;287(7445):1013-5.
4. Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. New England Journal of Medicine. 2007;357(16):1608-19.
5. 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.
6. Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, et al. Germline hypomorphic CARD11 mutations in severe atopic disease. Nature genetics. 2017;49(8):1192.
7. Lyons J, Liu Y, Ma C, Yu X, O’connell M, Lawrence M, et al. ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans. Journal of Experimental Medicine. 2017;214(3):669-80.
8. Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al. Combined immunodeficiency associated with DOCK8 mutations. New England Journal of Medicine. 2009;361(21):2046-55.
9. Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. Journal of Allergy and Clinical Immunology. 2014:133(5):1400-9. e5.
10. Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. HyperIgE syndrome with recurrent infections—an autosomal dominant multisystem disorder. New England Journal of Medicine. 1999;340(9):692-702.
11. Freeman A, Domingo D, Holland S. Hyper IgE (Job’s) syndrome: a primary immune deficiency with oral manifestations. Oral diseases. 2009;15(1):2-7.
12. Ponsford MJ, Klocperk A, Pulvirenti F, Dalm VA, Milota T, Cinetto F, et al. Hyper‐IgE in the allergy clinic––when is it primary immunodeficiency? Allergy. 2018;73(11):2122- 36.
13. Bergerson JR, Freeman AF. An update on syndromes with a hyper-IgE phenotype. Immunology and Allergy Clinics. 2019;39(1):49- 61.
14. Santana PRP, Medeiros AK, Barbisan CC, Gomes ACP, Marchiori E. Hyperimmunoglobulin E syndrome (Job syndrome): chest CT findings. Jornal Brasileiro de Pneumologia. 2018(AHEAD):0-.
15. Benninghoff U, Cattaneo F, Aiuti A, Flores‐ D’Arcais A, Gelmetti C, Viscardi M, et al. Clinical improvement and normalized Th1 cytokine profile in early and long‐term interferon‐α treatment in a suspected case of hyper‐IgE syndrome. Pediatric Allergy and Immunology. 2008;19(6):564-8.
16. Heimall J, Freeman A, Holland SM. Pathogenesis of hyper IgE syndrome. Clinical reviews in allergy & immunology. 2010;38(1):32- 8.
17. 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. Journal of Allergy and Clinical Immunology. 2009;124(6):1289-302. e4.
18. Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. The Journal of pediatrics. 2004;144(1):93-9.
19. Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Disease markers. 2010;29(3, 4):131-9.
20. Harada Y, Tanaka Y, Terasawa M, Pieczyk M, Habiro K, Katakai T, et al. DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses. Blood. 2012;119(19):4451-61.
21. Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, et al. DOCK8 functions as an adaptor that links TLRMyD88 signaling to B cell activation. Nature immunology. 2012;13(6):612.
22. Randall KL, Chan SS-Y, Ma CS, Fung I, Mei Y, Yabas M, et al. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. Journal of Experimental Medicine. 2011;208(11):2305-20.
23. Randall KL, Lambe T, Goodnow CC, Cornall RJ. The essential role of DOCK8 in humoral immunity. Disease markers. 2010:29(3-4):141-50.
24. Lambe T, Crawford G, Johnson AL, Crockford TL, Bouriez‐Jones T, Smyth AM, et al. DOCK8 is essential for T‐cell survival and the maintenance of CD8+ T‐cell memory. European journal of immunology. 2011;41(12):3423-35.
25. 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. Journal of clinical immunology. 2015;35(2):189- 98.
26. Ghaffari J, Ahanchian H, Zandieh F. Update on hyper IgE syndrome (HIES). Journal of Pediatrics Review. 2014;2(1):39-46.
27. Al-Herz W, Ragupathy R, Massaad MJ, Nanda A, Engelhardt KR, Grimbacher B, et al. Clinical, immunologic and genetic profiles of DOCK8- deficient patients in Kuwait. Clinical immunology. 2012;143(3):266-72.
28. Shah NN, Freeman AF, Parta M, Su H, Uzel G, Gea-Banacloche JC, et al. Haploidentical transplantation for DOCK8 deficiency. Am Soc Hematology; 2015.
29. Sanal O, Jing H, Ozgur T, Ayvaz D, StraussAlbee DM, Ersoy-Evans S, et al. Additional diverse findings expand the clinical presentation of DOCK8 deficiency. Journal of clinical immunology. 2012;32(4):698-708.
30. Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker E-O, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. Journal of Allergy and Clinical Immunology. 2010;125(2):424-32. e8.
31. 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. The Journal of pediatrics. 2012;160(6):1055-7.
32. Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Archives of dermatology. 2012;148(1):79-84.
33. Daan J, van Leeuwen EM, Jansen MH, van den Berg JM, Alders M, Vermont CL, et al. Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis. Clinical Immunology. 2013;149(1):25-31.
34. Romero RM, López AJ, Martín BX, Ortí MA, Carreras GdSM, Vaquero PM, et al., editors. Disseminated non-tuberculous mycobacterial infection in a patient with hyper-IgE syndrome. Anales de pediatria (Barcelona, Spain: 2003); 2013.
35. 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.
36. Su HC, Lenardo MJ. Combined immune deficiencies. Stiehm's Immune Deficiencies: Elsevier; 2014. p. 143-69.
37. 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. Journal of Allergy and Clinical Immunology. 2014;133(5):1410-9. e13.
38. Saghafi S, Pourpak Z, Glocker C, Nussbaumer F, Babamahmoodi A, Grimbacher B, et al. The diagnosis of hyper immunoglobulin e syndrome based on project management. Iranian Journal of Allergy, Asthma and Immunology. 2015:126-32.
39. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. The American Journal of Human Genetics. 2014;95(1):96-107.
40. Lyons JJ, Milner JD, Rosenzweig SD. Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology. Frontiers in pediatrics. 2015;3:54.
41. Antoniades K, Hatzistilianou M, Pitsavas G, Agouridaki C, Athanassiadou F. Co-existence of Dubowitz and hyper-IgE syndromes: a case report. European journal of pediatrics. 1996;155(5):390-2.
42. Boeck A, Gfatter R, Braun F, Fritz B. Pentasomy X and hyper IgE syndrome: coexistence of two distinct genetic disorders. European journal of pediatrics. 1999;158(9):723- 6.
43. Boeck A, Kosan C, Ciznar P, Kunz J. Saethre‐ Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene. American journal of medical genetics. 2001;104(1):53-6.
44. 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. Journal of Allergy and Clinical Immunology. 2015;136(2):402-12.
45. Caracciolo S, Moratto D, Giacomelli M, Negri S, Lougaris V, Porta F, et al. Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients. Clinical immunology. 2014;152(1-2):164-70.
46. Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B. An update on the hyper-IgE syndromes. Arthritis research & therapy. 2012;14(6):228.
47. Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, Artac H, et al. Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. Journal of Allergy and Clinical Immunology. 2009;124(2):342-8. e5.
48. Grimbacher B, Holland SM, Puck JM. Hyper‐ IgE syndromes. Immunological reviews. 2005;203(1):244-50.
49. McDonald DR. TH17 deficiency in human disease. Journal of Allergy and Clinical Immunology. 2012;129(6):1429-35.
50. 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 atopicdermatitis. Journal of allergy and clinical immunology. 2010;126(3):611-7. e1.
51. Kumánovics A, Wittwer CT, Pryor RJ, Augustine NH, Leppert MF, Carey JC, et al. Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. The Journal of Molecular Diagnostics. 2010;12(2):213-9.
52. Roxo Jr P, Torres L, Menezes U, Melo J. Lung function in hyper IgE syndrome. Pediatric pulmonology. 2013;48(1):81-4.
53. Sowerwine KJ, Holland SM, Freeman AF. Hyper-IgE syndrome update. Annals of the New York Academy of Sciences. 2012;1250:25.
54. Al-Zahrani D, Raddadi A, Massaad M, Keles S, Jabara HH, Chatila TA, et al. Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency. Clinical immunology. 2014;153(1):104-8.
55. Keles S, Jabara HH, Reisli I, McDonald DR, Barlan I, Hanna-Wakim R, et al. Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy. Journal of Allergy and Clinical Immunology. 2014;133(6):1753-5. e3.
56. Freeman AF, Holland SM. The hyper-IgE syndromes. Immunology and allergy clinics of North America. 2008;28(2):277-91.
57. Gatz S, Benninghoff U, Schütz C, Schulz A, Hönig M, Pannicke U, et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone marrow transplantation. 2011;46(4):552.
58. Metin A, Tavil B, Azık F, Azkur D, Ok‐ Bozkaya I, Kocabas C, et al. Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome. Pediatric transplantation. 2012;16(4):398-9.
59. Gennery A, Flood T, Abinun M, Cant A. Bone marrow transplantation does not correct the hyper IgE syndrome. Bone marrow transplantation. 2000;25(12):1303.
60. Deepa D, Kumar KA, Joshi CS, Kumar S, Pandey A. Fungal infection of gingiva in a patient with hyperimmunoglobulin-E (Job's) syndrome. Journal of Indian Society of Periodontology. 2012;16(2):256.
61. 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 Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2000;89(2):177-85.
62. Freeman AF, Avila EM, Shaw PA, Davis J, Hsu AP, Welch P, et al. Coronary artery abnormalities in Hyper-IgE syndrome. Journal of clinical immunology. 2011;31(3):338-45
| Files | ||
| Issue | Vol 2, No 3 (2019) | |
| Section | Review Article | |
| DOI | https://doi.org/10.22034/igj.2019.199870.1021 | |
| Keywords | ||
| Hyper IgE syndromes STAT3 DOCK8 diagnosis | ||
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How to Cite
1.
Tavakol M, Sharafian S, Salari F, Shokri S. A Review on Hyper-IgE Syndromes, Clinical Manifestations, Diagnosis and Therapeutic Approaches. Immunol Genet J. 2019;2(3):90-103.
