Research & Literature

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.

Hemoptysis in a Patient with Elevated Immunoglobulin E.

Gernez Y, Tsuang A, Smith TD, et al.

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1054-1058 doi:10.1016/j.jaip.2016.08.003.

Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.

Wu J, Chen J, Tian ZQ, et al.

Journal of clinical immunology 2017; (37(2)):166-179 doi:10.1007/s10875-017-0369-7.

Reduced Immunoglobulin (Ig) G Response to Staphylococcus aureus in STAT3 Hyper-IgE Syndrome.

Stentzel S, Hagl B, Abel F, et al.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2017; (64(9)):1279-1282 doi:10.1093/cid/cix140.

Interleukin-6 Family Cytokines.

Rose-John S

Cold Spring Harbor perspectives in biology 2018; (10(2)) doi:10.1101/cshperspect.a028415.

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T, Twigg SRF, Aschenbrenner D, et al.

The Journal of experimental medicine 2017; (214(9)):2547-2562 doi:10.1084/jem.20161810.

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.

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.

Phenotyping and long-term follow up of patients with hyper IgE syndrome.

Alyasin S, Esmaeilzadeh H, Ebrahimi N, et al.

Allergologia et immunopathologia 2019; (47(2)):152-158 doi:10.1016/j.aller.2018.07.009.

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.

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.

Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.

Duréault A, Tcherakian C, Poiree S, et al.

The journal of allergy and clinical immunology. In practice 2019; (7(6)):1986-1995.e3 doi:10.1016/j.jaip.2019.02.041.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Chen YH, Grigelioniene G, Newton PT, et al.

The Journal of experimental medicine 2020; (217(3)) doi:10.1084/jem.20191306.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V, Tavernier SJ, Chen YH, et al.

The Journal of experimental medicine 2020; (217(6)) doi:10.1084/jem.20191804.

The Child with Elevated IgE and Infection Susceptibility.

Freeman AF, Milner JD

Current allergy and asthma reports 2020; (20(11)):65 doi:10.1007/s11882-020-00964-y.

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.

Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome.

Harrison SC, Tsilifis C, Slatter MA, et al.

Journal of clinical immunology 2021; (41(5)):934-943 doi:10.1007/s10875-021-00971-2.

Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.

Chen YH, Zastrow DB, Metcalfe RD, et al.

The Journal of allergy and clinical immunology 2021; (148(2)):585-598 doi:10.1016/j.jaci.2021.02.044.

STAT3 Hyper-IgE Syndrome-an Update and Unanswered Questions.

Tsilifis C, Freeman AF, Gennery AR

Journal of clinical immunology 2021; (41(5)):864-880 doi:10.1007/s10875-021-01051-1.

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.

Loss of signal transducer and activator of transcription 3 impaired the osteogenesis of mesenchymal progenitor cells in vivo and in vitro.

Huang Z, Feng J, Feng X, et al.

Cell & bioscience 2021; (11(1)):172 doi:10.1186/s13578-021-00685-3.

Omalizumab for STAT3 Hyper-IgE Syndromes in Adulthood: A Case Report and Literature Review.

Lan J, Zhang Y, Song M, et al.

Frontiers in medicine 2022; (9()):835257 doi:10.3389/fmed.2022.835257.

Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.

Shamriz O, Rubin L, Simon AJ, et al.

Frontiers in immunology 2022; (13()):1044933 doi:10.3389/fimmu.2022.1044933.

IL-6 prevents Th2 cell polarization by promoting SOCS3-dependent suppression of IL-2 signaling.

Bachus H, McLaughlin E, Lewis C, et al.

Cellular & molecular immunology 2023; (20(6)):651-665 doi:10.1038/s41423-023-01012-1.

New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.

Arlabosse T, Materna M, Riccio O, et al.

Journal of clinical immunology 2023; (43(7)):1566-1580 doi:10.1007/s10875-023-01517-4.

Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome.

Mahdaviani SA, Ghadimi S, Fallahi M, et al.

BMC surgery 2023; (23(1)):289 doi:10.1186/s12893-023-02193-2.

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.

Primary immunodeficiency diseases of adults: a review of pulmonary complication imaging findings.

Grenier PA, Brun AL, Longchampt E, et al.

European radiology 2024; (34(6)):4142-4154 doi:10.1007/s00330-023-10334-7.

The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.

Chen YH, van Zon S, Adams A, et al.

Journal of clinical immunology 2023; (44(1)):30 doi:10.1007/s10875-023-01603-7.

Inborn errors of immunity and invasive fungal infections: presentation and management.

Paccoud O, Warris A, Puel A, Lanternier F

Current opinion in infectious diseases 2024; (37(6)):464-473 doi:10.1097/QCO.0000000000001062.

Improvement in Atopic Dermatitis and Recurrent Infection With Dupilumab in Children With Distinct Genetic Types of Hyper-IgE Syndrome: A Case Series and Literature Review.

Dick JK, Boull C, Pozos TC, Maguiness SM

Pediatric dermatology 2025; (42(2)):376-382 doi:10.1111/pde.15780.

Pulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature review.

Xie T, Xu N, Zhao H, et al.

Orphanet journal of rare diseases 2025; (20(1)):270 doi:10.1186/s13023-025-03749-6.

Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.

Ashihara K, Asano T, Takeuchi K, et al.

JCI insight 2025; (10(14)).

A fetal case of Stüve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6ST.

Braun D, Amylidi-Mohr S, Ahrens O, et al.

European journal of medical genetics 2025; (77()):105040 doi:10.1016/j.ejmg.2025.105040.

Efficacy of omalizumab in the treatment of STAT3 loss-of-function mutations associated with autosomal dominant hyperimmunoglobulin E syndrome-a case report.

Li H, Wang Y, Tao Y, et al.

Translational pediatrics 2025; (14(11)):3204-3212 doi:10.21037/tp-2025-379.

Invasive Pulmonary Aspergillosis in a Young Adult With Hyperimmunoglobulin E Syndrome and Hypogammaglobulinemia Following Rituximab Therapy.

Pandrangi GK, Golechha RN, Mills LR, et al.

Cureus 2026; (18(1)):e102562 doi:10.7759/cureus.102562.

A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.

Gemici Karaaslan B, Benamar M, Ulas S, et al.

Journal of clinical immunology 2026; (46(1)).

Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: Single-center cohort analysis.

Freeman AF, Wang C, Urban A, et al.

The Journal of allergy and clinical immunology 2026; (158(2)):569-581 doi:10.1016/j.jaci.2026.04.012.

How I Treat: STAT3 hyper IgE syndrome.

Murray CE, Jannoud E, Prader S, Grimbacher B

Journal of human immunity 2026; (2(4)):e20260038 doi:10.70962/jhi.20260038.

[STAT3 gene-related hyper-IgE syndrome complicated by pulmonary aspergillosis: a case report].

Xu WS, Wan YH, Zhao JQ, Mu XD

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases 2026; (49(6)):673-677 doi:10.3760/cma.j.cn112147-20250729-00450.

Hyper-IgE syndromes in pediatrics: clinical spectrum, differential diagnosis, and management.

Mikulić S, Mihaljević MV, Kraljević D

Folia medica 2026; (68(4)) doi:10.3897/folmed.68.e173262.