Research & Literature

PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome.

Frans G, Moens L, Schrijvers R, et al.

Journal of clinical immunology 2015; (35(8)):739-44 doi:10.1007/s10875-015-0205-x.

The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome.

Yanagimachi M, Ohya T, Yokosuka T, et al.

Journal of clinical immunology 2016; (36(5)):511-6 doi:10.1007/s10875-016-0278-1.

TH17 Cells in STAT3 Related Hyper-IgE Syndrome.

Sharma S, Saikia B, Goel S, et al.

Indian journal of pediatrics 2016; (83(10)):1104-8 doi:10.1007/s12098-016-2150-y.

B-cell-specific STAT3 deficiency: Insight into the molecular basis of autosomal-dominant hyper-IgE syndrome.

Kane A, Lau A, Brink R, et al.

The Journal of allergy and clinical immunology 2016; (138(5)):1455-1458.e3 doi:10.1016/j.jaci.2016.05.018.

Hyper-IgE Syndromes and the Lung.

Freeman AF, Olivier KN

Clinics in chest medicine 2016; (37(3)):557-67.

[Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8].

Alcántara-Montiel JC, Vega-Torres BI

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2016; (63(4)):385-396 doi:10.29262/ram.v63i4.217.

Liver abscess in a boy with hyper IgE syndrome.

Nandy S, Shah I

Journal of family medicine and primary care 2016; (5(2)):491-492 doi:10.4103/2249-4863.192353.

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.

Moens L, Schaballie H, Bosch B, et al.

Journal of clinical immunology 2017; (37(1)):12-17 doi:10.1007/s10875-016-0351-9.

Coronary atherosclerosis and dilation in hyper IgE syndrome patients: Depiction by magnetic resonance vessel wall imaging and pathological correlation.

Abd-Elmoniem KZ, Ramos N, Yazdani SK, et al.

Atherosclerosis 2017; (258()):20-25 doi:10.1016/j.atherosclerosis.2017.01.022.

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.

Gernez Y, Freeman AF, Holland SM, et al.

The journal of allergy and clinical immunology. In practice 2018; (6(3)):996-1001 doi:10.1016/j.jaip.2017.06.041.

Pediatric hyperimmunoglobulin E syndrome: A case series of 4 children in China.

Fan H, Huang L, Yang D, et al.

Medicine 2018; (97(14)):e0215 doi:10.1097/MD.0000000000010215.

[Hyper-IgE syndromes].

He YY, Liu B, Xiao XP

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2017; (31(11)):892-896 doi:10.13201/j.issn.1001-1781.2017.11.019.

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Béziat V, Li J, Lin JX, et al.

Science immunology 2018; (3(24)) doi:10.1126/sciimmunol.aat4956.

Who regulates whom: ZNF341 is an additional player in the STAT3/TH17 song.

August A

Science immunology 2018; (3(24)) doi:10.1126/sciimmunol.aat9779.

TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome.

Myles IA, Anderson ED, Earland NJ, et al.

The Journal of clinical investigation 2018; (128(8)):3595-3604.

Human hyper-IgE syndrome: singular or plural?

Zhang Q, Boisson B, Béziat V, et al.

Mammalian genome : official journal of the International Mammalian Genome Society 2018; (29(7-8)):603-617 doi:10.1007/s00335-018-9767-2.

A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa.

Shrestha P, Sabharwal G, Ghaffari G

Case reports in immunology 2018; (2018()):4860902 doi:10.1155/2018/4860902.

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T, Aschenbrenner D, Cagdas D, et al.

Haematologica 2019; (104(3)):609-621 doi:10.3324/haematol.2018.194233.

An Update on Syndromes with a Hyper-IgE Phenotype.

Bergerson JRE, Freeman AF

Immunology and allergy clinics of North America 2019; (39(1)):49-61 doi:10.1016/j.iac.2018.08.007.

Humoral immunodeficiencies: conferred risk of infections and benefits of immunoglobulin replacement therapy.

Gernez Y, Baker MG, Maglione PJ

Transfusion 2018; (58 Suppl 3()):3056-3064 doi:10.1111/trf.15020.

Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.

Kröner C, Neumann J, Ley-Zaporozhan J, et al.

Allergy 2019; (74(9)):1691-1702 doi:10.1111/all.13753.

The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis.

Tavassoli M, Abolhassani H, Yazdani R, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2019; (30(4)):469-478 doi:10.1111/pai.13043.

Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression.

Todaro F, Tamassia N, Pinelli M, et al.

Haematologica 2019; (104(7)):e322-e325 doi:10.3324/haematol.2018.202374.

JAK-STAT Signaling: A Double-Edged Sword of Immune Regulation and Cancer Progression.

Owen KL, Brockwell NK, Parker BS

Cancers 2019; (11(12)) doi:10.3390/cancers11122002.

Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential.

Meixner I, Hagl B, Kröner CI, et al.

Orphanet journal of rare diseases 2020; (15(1)):244 doi:10.1186/s13023-020-01516-3.

Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome.

Ponsford MJ, Clark J, Mock J, et al.

Frontiers in pediatrics 2020; (8()):575 doi:10.3389/fped.2020.00575.

Oral ulcerations in a patient with autosomal dominant hyper-IgE syndrome (AD-HIES).

Borst J, Ma L

BMJ case reports 2020; (13(11)) doi:10.1136/bcr-2020-236705.

A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis.

Kasap N, Celik V, Isik S, et al.

Clinical immunology (Orlando, Fla.) 2021; (223()):108645 doi:10.1016/j.clim.2020.108645.

Benralizumab for Prednisone-Dependent Eosinophilic Asthma Associated With Novel STAT3 Loss of Function Mutation.

Adatia A, Allen CJ, Wald J, et al.

Chest 2021; (159(4)):e181-e184 doi:10.1016/j.chest.2020.11.042.

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Asano T, Khourieh J, Zhang P, et al.

The Journal of experimental medicine 2021; (218(8)) doi:10.1084/jem.20202592.

Hyper-IgE syndrome, 2021 update.

Minegishi Y

Allergology international : official journal of the Japanese Society of Allergology 2021; (70(4)):407-414 doi:10.1016/j.alit.2021.07.007.

STAT3 is critical for skeletal development and bone homeostasis by regulating osteogenesis.

Zhou S, Dai Q, Huang X, et al.

Nature communications 2021; (12(1)):6891 doi:10.1038/s41467-021-27273-w.

JMJD3 Promotes Porphyromonas gingivalis Lipopolysaccharide-Induced Th17-Cell Differentiation by Modulating the STAT3-RORc Signaling Pathway.

Huang D, Zhang C, Wang P, et al.

DNA and cell biology 2022; (41(8)):778-787 doi:10.1089/dna.2022.0149.

Immunosuppression in Patients With Primary Immunodeficiency-Walking the Line.

Mustafa SS, Rider NL, Jolles S

The journal of allergy and clinical immunology. In practice 2022; (10(12)):3088-3096 doi:10.1016/j.jaip.2022.08.025.

Osteoblastic STAT3 Is Crucial for Orthodontic Force Driving Alveolar Bone Remodeling and Tooth Movement.

Gong X, Sun S, Yang Y, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2023; (38(1)):214-227 doi:10.1002/jbmr.4744.

The signal transducer and activator of transcription 3 at the center of the causative gene network of the hyper-IgE syndrome.

Minegishi Y

Current opinion in immunology 2023; (80()):102264 doi:10.1016/j.coi.2022.102264.

STAT3 mutation-associated airway epithelial defects in Job syndrome.

Zhang Y, Lin T, Leung HM, et al.

The Journal of allergy and clinical immunology 2023; (152(2)):538-550 doi:10.1016/j.jaci.2022.12.821.

Dupilumab in the treatment of genodermatosis: A systematic review.

Wu PC, Dai YX, Li CL, et al.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2023; (21(1)):7-17 doi:10.1111/ddg.14924.

Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.

Carrabba M, Dellepiane RM, Cortesi M, et al.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2023; (19(1)):32 doi:10.1186/s13223-023-00776-5.

Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.

Tar I, Szegedi M, Krasuska-Sławińska E, et al.

Central-European journal of immunology 2023; (48(3)):228-236 doi:10.5114/ceji.2023.130874.

[Recurrence of a Giant Emphysematous Bulla After Bullectomy:Report of a Case].

Inoue Y, Yoshida D, Yotsumoto T, et al.

Kyobu geka. The Japanese journal of thoracic surgery 2023; (76(12)):1065-1068.

Resolving persistent air leaks associated with autosomal dominant hyper-IgE syndrome using one-way endobronchial valves: report of cases.

Kucera J, Buhaya M, Sartain NN, et al.

AME case reports 2024; (8()):43 doi:10.21037/acr-23-35.

Identifying potentially undiagnosed individuals with hyper-IgE syndrome using a scoring system.

Finkelshtain S, Cohen-Engler A, Rosman Y, et al.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2024; (133(6)):696-702.e2 doi:10.1016/j.anai.2024.07.028.

Challenges in diagnosing and managing hyper-IgE syndrome in a resource-limited setting: a case report.

Adhikari P, Regmi R, Yadav PS, Kafle S

Annals of medicine and surgery (2012) 2024; (86(9)):5582-5585 doi:10.1097/MS9.0000000000002407.

Phenotypes of 126 Moroccan HIES patients according to NIH Score.

Fadil I, Benhsaien I, El Bakkouri J, et al.

La Tunisie medicale 2024; (102(10)):696-701 doi:10.62438/tunismed.v102i10.5148.

Whole-exome sequencing assists in the diagnosis of hyperimmunoglobulin E syndrome: Insights into dual genetic abnormalities.

Li SY, Cao W, Ge Y, et al.

Heliyon 2025; (11(4)):e42408 doi:10.1016/j.heliyon.2025.e42408.

The genetics of hyper IgE syndromes.

AlYafie R, Velayutham D, van Panhuys N, Jithesh PV

Frontiers in immunology 2025; (16()):1516068 doi:10.3389/fimmu.2025.1516068.

STAT3-Dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome.

Sun L, Walls SA, Dang H, et al.

American journal of respiratory and critical care medicine 2025; (211(10)):1951-1969 doi:10.1164/rccm.202407-1415OC.

Case Report: Biliary hemorrhage by intrahepatic pseudoaneurysm and asymptomatic right coronary artery pseudoaneurysm in a patient with STAT3 hyper IgE syndrome.

Fujita D, Ueki M, Yamanaka H, et al.

Frontiers in immunology 2025; (16()):1601776 doi:10.3389/fimmu.2025.1601776.

Adenoidal hypertrophy and pulmonary bullae in a child: a case report.

Ding L, Jiang H

Journal of medical case reports 2025; (19(1)):276 doi:10.1186/s13256-025-05339-3.

Intraoperative Pneumatocele Formation during Liver Transplantation for Polycystic Liver Disease: Successful Non-Operative Management.

Takada S, Nakanuma S, Kobori R, et al.

Surgical case reports 2025; (11(1)) doi:10.70352/scrj.cr.25-0341.

Understanding and Managing Hyper IgE Syndromes.

Meric Z, Aydin M, Demir Gumus D, et al.

ImmunoTargets and therapy 2025; (14()):1233-1245 doi:10.2147/ITT.S532287.