Research & Literature

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.

Aydin SE, Kilic SS, Aytekin C, et al.

Journal of clinical immunology 2015; (35(2)):189-98 doi:10.1007/s10875-014-0126-0.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

Engelhardt KR, Gertz ME, Keles S, et al.

The Journal of allergy and clinical immunology 2015; (136(2)):402-12.

Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.

Hagl B, Heinz V, Schlesinger A, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2016; (27(2)):177-84 doi:10.1111/pai.12512.

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.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.

Krabbenborg L, Vissers LE, Schieving J, et al.

Journal of genetic counseling 2016; (25(6)):1207-1214 doi:10.1007/s10897-016-9958-5.

Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation.

Keles S, Charbonnier LM, Kabaleeswaran V, et al.

The Journal of allergy and clinical immunology 2016; (138(5)):1384-1394.e2 doi:10.1016/j.jaci.2016.04.023.

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.

STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.

Lorenzini T, Dotta L, Giacomelli M, et al.

Journal of leukocyte biology 2017; (101(1)):29-38 doi:10.1189/jlb.5RI0516-237RR.

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.

Clinical Profile, Dosing, and Quality-of-Life Outcomes in Primary Immune Deficiency Patients Treated at Home with Immunoglobulin G: Data from the IDEaL Patient Registry.

Kearns S, Kristofek L, Bolgar W, et al.

Journal of managed care & specialty pharmacy 2017; (23(4)):400-406 doi:10.18553/jmcp.2017.23.4.400.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Zurynski Y, Deverell M, Dalkeith T, et al.

Orphanet journal of rare diseases 2017; (12(1)):68 doi:10.1186/s13023-017-0622-4.

Immunoglobulin replacement therapy in primary and secondary antibody deficiency: The correct clinical approach.

Pecoraro A, Crescenzi L, Granata F, et al.

International immunopharmacology 2017; (52()):136-142 doi:10.1016/j.intimp.2017.09.005.

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.

Pulmonary Artery Pseudoaneurysm in Hyper-IgE Syndrome: Rare Complication With Successful Endovascular Management.

Sharma A, Kumar S, Jagia P

Vascular and endovascular surgery 2018; (52(5)):375-377 doi:10.1177/1538574418762656.

ZNF341 controls STAT3 expression and thereby immunocompetence.

Frey-Jakobs S, Hartberger JM, Fliegauf M, et al.

Science immunology 2018; (3(24)) doi:10.1126/sciimmunol.aat4941.

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.

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.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

"It is like a jungle gym, and everything is under construction": The parent's perspective of caring for a child with a rare disease.

Currie G, Szabo J

Child: care, health and development 2019; (45(1)):96-103 doi:10.1111/cch.12628.

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.

Impaired memory B-cell development and antibody maturation with a skewing toward IgE in patients with STAT3 hyper-IgE syndrome.

van de Veen W, Krätz CE, McKenzie CI, et al.

Allergy 2019; (74(12)):2394-2405 doi:10.1111/all.13969.

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.

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.

The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations.

Lin L, Wang Y, Sun B, et al.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2020; (16()):65 doi:10.1186/s13223-020-00462-w.

An Unusual Pattern of Premature Cervical Spine Degeneration in STAT3-LOF.

Mitchell AL, Urban AK, Freeman AF, Hammoud DA

Journal of clinical immunology 2021; (41(3)):576-584 doi:10.1007/s10875-020-00926-z.

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.

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.

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Frede N, Rojas-Restrepo J, Caballero Garcia de Oteyza A, et al.

Journal of clinical immunology 2021; (41(8)):1804-1838 doi:10.1007/s10875-021-01086-4.

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.

CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome.

Ravendran S, Hernández SS, König S, Bak RO

Frontiers in genome editing 2022; (4()):793010 doi:10.3389/fgeed.2022.793010.

Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.

Martinussen J, Chalk M, Elliott J, Gallacher L

Journal of personalized medicine 2022; (12(8)) doi:10.3390/jpm12081250.

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.

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.

[Combined immunodeficiency due to DOCK8 deficiency. State of the art].

Liquidano-Pérez E, Maza-Ramos G, Yamazaki-Nakashimada MA, et al.

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2022; (69(1)):31-47 doi:10.29262/ram.v69i1.1104.

Disseminated Talaromyces marneffei Infection With STAT3-Hyper-IgE Syndrome: A Case Series and Literature Review.

Li Z, Yang J, Qiu Y, et al.

Open forum infectious diseases 2023; (10(4)):ofac614 doi:10.1093/ofid/ofac614.

Inherited human ZNF341 deficiency.

Béziat V, Fieschi C, Momenilandi M, et al.

Current opinion in immunology 2023; (82()):102326 doi:10.1016/j.coi.2023.102326.

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.

Hyper IgE Syndromes.

Gracci S, Novelli T, D'Elios S, et al.

Current pediatric reviews 2024; (20(3)):253-264 doi:10.2174/1573396320666230912103124.

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.

Unraveling the unphosphorylated STAT3-unphosphorylated NF-κB pathway in loss of function STAT3 Hyper IgE syndrome.

Karim A, Garg R, Saikia B, et al.

Frontiers in immunology 2024; (15()):1332817 doi:10.3389/fimmu.2024.1332817.

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.

Immunoglobulin therapy for immunodeficiency.

Wilson BE, Freeman CM

Allergy and asthma proceedings 2024; (45(5)):364-370 doi:10.2500/aap.2024.45.240053.

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.

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.

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.

Allogeneic hematopoietic stem cell transplantation for STAT3 hyper-IgE syndrome: a worldwide study.

Tsilifis C, Raedler J, Renke J, et al.

Blood advances 2025; (9(16)):4126-4135 doi:10.1182/bloodadvances.2025016158.

Decreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.

Molnár E, Kovács G, Tahami F, et al.

The journal of allergy and clinical immunology. Global 2026; (5(2)):100603 doi:10.1016/j.jacig.2025.100603.

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.

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.

Successful coil occlusion of intracranial aneurysm in a child with STAT3 hyper IgE syndrome.

Sil A, Ahuja CK, Vignesh P, et al.

Journal of human immunity 2025; (1(2)):e20250028 doi:10.70962/jhi.20250028.

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.

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.

Case Report: STAT3 hyper-IgE syndrome in children: two cases report with uncommon complications of tuberculosis and lymphoma.

Cao X, Wang B, Xu Y

Frontiers in pediatrics 2026; (14()):1872306 doi:10.3389/fped.2026.1872306.