Hyper IgE Syndrome: Bridging the Gap Between Immunodeficiency, Atopy, and Allergic Diseases

Heimall J, Freeman A, Holland SM. Pathogenesis of Hyper IgE Syndrome. Clinic Rev Allerg Immunol. 2010;38:32–8. https://doi.org/10.1007/s12016-009-8134-1.

Article  CAS  Google Scholar 

Freeman A, Domingo D, Holland S. Hyper IgE (Job’s) Syndrome: A Primary Immune Deficiency with Oral Manifestations. Oral Dis. 2009;15:2–7. https://doi.org/10.1111/j.1601-0825.2008.01463.x.

Article  PubMed  CAS  Google Scholar 

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;340:692–702. https://doi.org/10.1056/NEJM199903043400904.

Article  PubMed  CAS  Google Scholar 

Narahari NK, Kodati R, Ranganath P, Kakarla B, Gongati P. Pulmonary Manifestations in Hyper IgE Syndrome: A Case Series and Review of Indian Literature. Lung India. 2024;41:464. https://doi.org/10.4103/lungindia.lungindia_332_24.

Article  PubMed  PubMed Central  Google Scholar 

Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, et al. STAT3 Mutations in the Hyper-IgE Syndrome. N Engl J Med. 2007;357:1608–19. https://doi.org/10.1056/NEJMoa073687.

Article  PubMed  CAS  Google Scholar 

Freeman AF, Holland SM. The Hyper-IgE Syndromes. Immunol Allergy Clin North Am. 2008;28:277–91. https://doi.org/10.1016/j.iac.2008.01.005.

Article  PubMed  PubMed Central  Google Scholar 

Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, Kawamura N, Ariga T, Pasic S, Stojkovic O, et al. Dominant-Negative Mutations in the DNA-Binding Domain of STAT3 Cause Hyper-IgE Syndrome. Nature. 2007;448:1058–62. https://doi.org/10.1038/nature06096.

Article  PubMed  CAS  Google Scholar 

Renner ED, Rylaarsdam S, Aňover-Sombke S, Rack AL, Reichenbach J, Carey JC, Zhu Q, Jansson AF, Barboza J, Schimke LF, et al. Novel Signal Transducer and Activator of Transcription 3 (STAT3) Mutations, Reduced TH17 Cell Numbers, and Variably Defective STAT3 Phosphorylation in Hyper-IgE Syndrome. J Allergy Clin Immunol. 2008;122:181–7. https://doi.org/10.1016/j.jaci.2008.04.037.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, 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;124:1289-1302.e4. https://doi.org/10.1016/j.jaci.2009.10.038.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Gu H, Xie M, Zhao S, Luo X, Huang Y, Yang L, Guan F, Lei J, Liu C. DOCK8 Gene Mutation Alters Cell Subsets, BCR Signaling, and Cell Metabolism in B Cells. Cell Death Dis. 2024;15:1–12. https://doi.org/10.1038/s41419-024-07180-w.

Article  CAS  Google Scholar 

Al-Shaikhly T, Ochs HD. Hyper IgE Syndromes: Clinical and Molecular Characteristics. Immunol Cell Biol. 2019;97:368–79. https://doi.org/10.1111/imcb.12209.

Article  PubMed  CAS  Google Scholar 

Alyasin S, Esmaeilzadeh H, Ebrahimi N, Nabavizadeh SH, Kashef S, Esmaeilzadeh E, Babaei M, Amin R. Phenotyping and Long-Term Follow up of Patients with Hyper IgE Syndrome. Allergol Immunopathol. 2019;47:152–8. https://doi.org/10.1016/j.aller.2018.07.009.

Article  CAS  Google Scholar 

Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, et al. Hypomorphic Homozygous Mutations in Phosphoglucomutase 3 (PGM3) Impair Immunity and Increase Serum IgE Levels. J Allergy Clin Immunol. 2014;133:1410-1419.e13. https://doi.org/10.1016/j.jaci.2014.02.025.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Moulding DA, Record J, Malinova D, Thrasher AJ. Actin Cytoskeletal Defects in Immunodeficiency. Immunol Rev. 2013;256:282–99. https://doi.org/10.1111/imr.12114.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Rusiñol L, Puig L. Tyk2 Targeting in Immune-Mediated Inflammatory Diseases. Int J Mol Sci. 2023;24:3391. https://doi.org/10.3390/ijms24043391.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, et al. Human Tyrosine Kinase 2 Deficiency Reveals Its Requisite Roles in Multiple Cytokine Signals Involved in Innate and Acquired Immunity. Immunity. 2006;25:745–55. https://doi.org/10.1016/j.immuni.2006.09.009.

Article  PubMed  CAS  Google Scholar 

Minegishi Y. Hyper-IgE Syndrome. Curr Opin Immunol. 2009;21:487–92. https://doi.org/10.1016/j.coi.2009.07.013.

Article  PubMed  CAS  Google Scholar 

Sarrafzadeh SA, Mahloojirad M, Casanova J-L, Badalzadeh M, Bustamante J, Boisson-Dupuis S, Pourpak Z, Nourizadeh M, Moin M. A New Patient with Inherited TYK2 Deficiency. J Clin Immunol. 2020;40:232–5. https://doi.org/10.1007/s10875-019-00713-5.

Article  PubMed  Google Scholar 

Milner JD, Brenchley JM, Laurence A, Freeman AF, Hill BJ, Elias KM, Kanno Y, Spalding C, Elloumi HZ, Paulson ML, et al. Impaired TH17 Cell Differentiation in Subjects with Autosomal Dominant Hyper-IgE Syndrome. Nature. 2008;452:773–6. https://doi.org/10.1038/nature06764.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Ma CS, Chew GYJ, Simpson N, Priyadarshi A, Wong M, Grimbacher B, Fulcher DA, Tangye SG, Cook MC. Deficiency of Th17 Cells in Hyper IgE Syndrome Due to Mutations in STAT3. J Exp Med. 2008;205:1551–7. https://doi.org/10.1084/jem.20080218.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Minegishi Y, Saito M. Molecular Mechanisms of the Immunological Abnormalities in Hyper-IgE Syndrome. Ann N Y Acad Sci. 2011;1246:34–40. https://doi.org/10.1111/j.1749-6632.2011.06280.x.

Article  PubMed  CAS  Google Scholar 

Rael EL, Marshall RT, McClain JJ. The Hyper-IgE Syndromes: Lessons in Nature, From Bench to Bedside. World Allergy Organ J. 2012;5:79–87. https://doi.org/10.1097/WOX.0b013e31825a73b2.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Sutanto H. Mechanobiology of Type 1 Hypersensitivity: Elucidating the Impacts of Mechanical Forces in Allergic Reactions. Mechanobiol Med. 2024;2:100041. https://doi.org/10.1016/j.mbm.2024.100041.

Article  Google Scholar 

Liang SC, Tan X-Y, Luxenberg DP, Karim R, Dunussi-Joannopoulos K, Collins M, Fouser LA. Interleukin (IL)-22 and IL-17 Are Coexpressed by Th17 Cells and Cooperatively Enhance Expression of Antimicrobial Peptides. J Exp Med. 2006;203:2271–9. https://doi.org/10.1084/jem.20061308.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Manni ML, Robinson KM, Alcorn JF. A Tale of Two Cytokines: IL-17 and IL-22 in Asthma and Infection. Expert Rev Respir Med. 2014;8:25–42. https://doi.org/10.1586/17476348.2014.854167.

Article  PubMed  CAS  Google Scholar 

Avery DT, Bryant VL, Ma CS, de Waal Malefyt R, Tangye SG. IL-21-Induced Isotype Switching to IgG and IgA by Human Naive B Cells Is Differentially Regulated by IL-4. J Immunol. 2008;181:1767–79. https://doi.org/10.4049/jimmunol.181.3.1767.

Article  PubMed  CAS  Google Scholar 

Boos AC, Hagl B, Schlesinger A, Halm BE, Ballenberger N, Pinarci M, Heinz V, Kreilinger D, Spielberger BD, Schimke-Marques LF, et al. Atopic Dermatitis, STAT3- and DOCK8-Hyper-IgE Syndromes Differ in IgE-Based Sensitization Pattern. Allergy. 2014;69:943–53. https://doi.org/10.1111/all.12416.

Article  PubMed  CAS 

Comments (0)

No login
gif