Uma condição caracterizada por níveis elevados de IgE no sangue, inflamação da pele e infecções respiratórias.
Introdução
O que você precisa saber de cara
Uma condição caracterizada por níveis elevados de IgE no sangue, inflamação da pele e infecções respiratórias.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 125 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 301 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
8 genes identificados com associação a esta condição.
Transcriptional activator of STAT3 involved in the regulation of immune homeostasis. Also able to activate STAT1 transcription
Nucleus
Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections
An immunologic disorder characterized by skin bacterial infections in particular with Staphylococcus aureus, susceptibility to fungal infections such as chronic mucocutaneous candidiasis, atopic dermatitis, recurrent respiratory infections, bronchiectasis, and increased serum IgE and IgG. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells. Some patients manifest extrahemapoietic features, including facial dysmorphism, abnormal dentition, alopecia, joint hypermobility and bone fractures. Disease onset is in early childhood.
Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state (PubMed:16203728). Inhibits NOD2-dependent NF-kappa-B signaling and pro-inflammatory cytokine secretion (PubMed:16203728)
Cell junction, hemidesmosomeNucleus membraneBasolateral cell membrane
Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal (PubMed:28265003). Signal activation necessitate an association with IL6ST. Activation leads to the regulation of the immune response, acute-phase reactions and hematopoiesis (PubMed:30995492, PubMed:31235509). The interaction with membrane-bound IL6R and IL6ST stimulates 'classic signaling', the restricted expression of the IL6R limits classic IL6 signaling to only a few tissues such as the l
Cell membraneSecreted
Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections
An immunologic disorder characterized by recurrent sinopulmonary and deep skin infections, mostly caused by bacteria, including H.influenza and S.aureus. Additional features include asthma, atopic dermatitis, and impaired inflammatory responses during infection. Disease onset is in early infancy.
Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:22461490, PubMed:28028151). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). Is involved in NK cell
CytoplasmCell membraneCell projection, lamellipodium membrane
Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections
A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement.
Signal-transducing molecule (PubMed:2261637). The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activates the intracellular JAK-MAPK and JAK-STAT3 signaling pathways (PubMed:19915009, PubMed:2261637, PubMed:23294003). That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3 (PubMed:19915009
Cell membraneSecreted
Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections
An immunologic disorder characterized by recurrent mainly sino-pulmonary infections associated with increased serum IgE. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures.
Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling
CytoplasmNucleus
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
An immunologic disorder characterized by severe allergic disease with onset in infancy. Common features are treatment-resistant atopic dermatitis, food allergies, asthma, eosinophilic gastrointestinal disease, and severe episodes of anaphylaxis. Half of the patients present with recurrent skin, respiratory, and viral infections. Clinical laboratory testing is notable for eosinophilia and markedly elevated serum IgE levels.
Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors (PubMed:10688651, PubMed:12359225, PubMed:12873986, PubMed:15194700, PubMed:15653507, PubMed:16285960, PubMed:17344214, PubMed:18242580, PubMed:18782771, PubMed:22306293, PubMed:23084476, PubMed:28262505, PubMed:32929201, PubMed:38404237). Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene (PubMed:15653507, Pu
CytoplasmNucleus
Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections
A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures.
Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, its major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin
Secreted
Netherton syndrome
An autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration.
Medicamentos e terapias
Mecanismo: TNF-alpha inhibitor
Mecanismo: IL36 receptor antagonist
Mecanismo: Interleukin-4 receptor subunit alpha antagonist
Mecanismo: FK506-binding protein 1A inhibitor
Variantes genéticas (ClinVar)
112 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 15 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
63 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de hiper IgE
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
14 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities.
Dento-maxillofacial abnormalities are highly prevalent and arise as a result of a variety of etiological factors, presenting substantial challenges to treatment. The JAK-STAT signaling plays a pivotal role in dentofacial development, regulating endochondral ossification, intramembranous ossification, dental follicle formation, and enamel development. Mutations in the JAK-STAT signaling lead to syndromes associated with severe dento-maxillofacial abnormalities, including Growth Hormone Insensitivity Syndrome and Autosomal Dominant Hyper-IgE Syndrome. Corresponding mouse disease models have been developed to simulate the phenotypes observed in clinical patients and investigate their underlying mechanism. Meanwhile, several medications targeting JAK-STAT signaling, including baricitinib and imatinib, have been developed for clinical application, demonstrating significant effects in skeletal disorders such as osteoporosis and osteoarthritis, indicating promising effects in development and abnormalities of dento-maxillofacial. In this review, we aim to summarize the role of JAK-STAT signaling in the development and abnormalities of dento-maxillofacial bone, and the relevant molecules that may be utilized for clinical treatment, to shed new light on the precise treatment of dento-maxillofacial abnormalities.
Non-syndromic hyper-IgE in children: A practical approach.
Hyper-IgE, generally defined as serum IgE levels exceeding 2000 IU/mL, presents a common yet complex diagnostic challenge in pediatric practice. While elevated serum IgE are frequently observed in atopic conditions such as food allergy or atopic eczema, or parasitic infections, they may also signal underlying monogenic immunological diseases, specifically inborn errors of immunity (IEI) categorized under hyper-IgE syndrome (HIES). Distinguishing between common atopic diseases and HIES is essential, especially in children with early-onset, severe, or treatment-resistant presentations. This review focuses on non-syndromic causes of hyper-IgE in children, aiming to provide a practical, structured framework for clinicians. A broad array of conditions, including allergic diseases, infections, inflammatory disorders, malignancies, drug reactions, and environmental exposures, can result in elevated IgE levels. Given this wide differential, a systematic approach that incorporates detailed clinical history, physical examination, and targeted investigations is critical to guide diagnostic reasoning. To aid clinical decision-making, the authors propose a stepwise diagnostic algorithm that prioritizes common causes while also alerting clinicians to red flags suggestive of IEI or other rare conditions. This approach facilitates timely referral for immunologic or genetic evaluation when appropriate and minimizes unnecessary testing. Increased awareness of the diverse etiologies of hyper-IgE can improve diagnostic accuracy, enhance early intervention, and reduce morbidity. Future research should aim to refine diagnostic strategies, validate clinical algorithms, and develop standardized guidelines. Moreover, long-term data regarding characterization and subsequent follow-up of children with an isolated increase in serum IgE levels is fundamental to understanding the clinical and immunological trajectories of these patients.
Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.
Hyper-IgE syndrome (HIES) is characterized by elevated serum IgE levels, eczema, and recurrent skin and pulmonary infections, classically caused by autosomal dominant (AD) STAT3 loss-of-function variants. Here we describe a patient presenting with elevated IgE levels, atopic eczema, chronic pulmonary aspergillosis, and bone fractures, homozygous for a rare missense variant in the oncostatin M receptor (OSMR) gene. We demonstrate that the patient OSMR V436D variant is deleterious and leads to decreased OSMR surface expression and impaired OSM-induced STAT3 phosphorylation. Blood profiling showed elevated IgE-expressing plasmablasts and peripheral T follicular helper cells and atypical memory B cells. A germinal center model revealed a B cell-extrinsic defect in concordance with a largely fibroblast-confined phenotype. Finally, reconstitution of patient fibroblasts led to functional complementation of the cellular phenotype. We propose OSMR deficiency as a novel genetic etiology of AR-HIES, resembling the clinical and immunological phenotype of STAT3 AD-HIES, but mediating its phenotypic profile mainly in the stromal rather than hematopoietic compartment.
Orbital Abscess in an Infant With STAT3 Hyper-IgE Syndrome.
Orbital cellulitis (OC) is a rare diagnosis in infants, with limited numbers of cases reported in the literature to date. We report a 34‑day‑old female who presented with severe left-sided periorbital swelling and proptosis. Imaging confirmed a large orbital abscess with associated ethmoid sinusitis, and she underwent urgent exploration and drainage and initiation of broad‑spectrum intravenous antibiotics. Cultures grew methicillin‑sensitive Staphylococcus aureus. Postoperatively, she developed leukocytosis, eosinophilia, and recurrent skin abscesses, prompting immunologic evaluation. Genetic testing identified a novel STAT3 mutation in the SH2 domain consistent with Hyper‑IgE syndrome. This case highlights both the importance of prompt surgical and medical intervention in infantile orbital cellulitis and the need to consider underlying immune dysregulation when atypical clinical or laboratory findings are present. To our knowledge, this is the first reported case of infantile orbital cellulitis associated with Hyper-IgE syndrome, and the first report of this specific STAT3 variant causing hyper‑IgE syndrome.
Neutrophil hyperresponsiveness contributes to lung pathology in STAT3V463Δ mice.
Autosomal dominant hyper-IgE syndrome (AD-HIES), or Job's syndrome, is a rare primary immunodeficiency caused by dominant-negative mutations in STAT3. Patients experience recurrent pulmonary infections and chronic inflammation, leading to severe complications and heightened mortality risk. To investigate whether neutrophil-intrinsic dysfunction contributes to lung pathology in AD-HIES, we used a murine model expressing the STAT3V463Δ mutation, a common disease-associated variant. Following intratracheal infection with Pseudomonas aeruginosa, STAT3V463Δ mice exhibited pronounced alveolar damage, increased vascular congestion, and extensive leukocyte infiltration compared to wild-type (WT) controls. These changes were accompanied by elevated bacterial burden and significantly increased levels of pro-inflammatory cytokines and chemokines in the lung. Neutrophil recruitment to the lungs was markedly elevated, and surface expression of degranulation markers was enhanced in STAT3V463Δ neutrophils in vivo. To determine whether neutrophil hyperactivation was driven by intrinsic defects independent of microbial load, mice were challenged intratracheally with purified lipopolysaccharide (LPS), revealing similarly enhanced neutrophil degranulation and NETosis in STAT3V463Δ mice despite controlled PAMP exposure. Mechanistically, bone marrow-derived neutrophils (BMDNs) from STAT3V463Δ mice displayed heightened degranulation and NETosis in response to PMA or f-MLF stimulation. Together, these findings demonstrate that STAT3V463Δ drives neutrophil hyperresponsiveness, contributing to dysregulated inflammation and pulmonary tissue damage in AD-HIES.
Publicações recentes
STAT3 isoform dynamics reveal robust splice ratio maintenance across cytokine-activated human immune cells.
STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.
Dock8 regulates Th2 cell differentiation through ANXA1.
An Infant With Hyper IgE Syndrome Mimicking Acute Leukemia.
A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.
📚 EuropePMC463 artigos no totalmostrando 197
Non-syndromic hyper-IgE in children: A practical approach.
The World Allergy Organization journalOncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.
Journal of human immunityJAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities.
International journal of oral scienceOrbital Abscess in an Infant With STAT3 Hyper-IgE Syndrome.
Ophthalmic plastic and reconstructive surgeryNeutrophil hyperresponsiveness contributes to lung pathology in STAT3V463Δ mice.
Journal of immunology (Baltimore, Md. : 1950)Autosomal Dominant Hyper-IgE Syndrome Patients Retain IL10-Producing preTh17-Cells That Are Activated by Opportunistic Pathogens and Support IgE Production.
AllergyClinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey.
Immunity, inflammation and diseaseSTAT3-Mutated Hyper-IgE Syndrome With Retroperitoneal Abscess in Adolescence.
Clinical case reportsSPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.
The journal of allergy and clinical immunology. In practiceDOCK8 and STAT3 cooperate to restrain IgE-inducing T follicular helper cells.
The Journal of experimental medicineDecreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.
The journal of allergy and clinical immunology. GlobalAn integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.
Genome medicineSTAT3 c.1915C > T variant-associated Hyper-IgE syndrome in a child: a case report.
Frontiers in pediatricsRecurrent Disseminated Talaromycosis Mimicking Liver Disease in a STAT3-Mutated HIES Patient: A Case Report.
Infection and drug resistanceRecurrent severe infections in a child with STAT3-associated hyper-IgE syndrome.
JAAD case reportsEfficacy of omalizumab in the treatment of STAT3 loss-of-function mutations associated with autosomal dominant hyperimmunoglobulin E syndrome-a case report.
Translational pediatricsJob's not done: BCG-itis as the first manifestation of hyper-IgE syndrome. A case report and review of the literature.
Clinical immunology (Orlando, Fla.)Progressive multifocal leukoencephalopathy in a young adult with DOCK8 deficiency: a case of JC virus reactivation in primary immunodeficiency.
Journal of neurovirologySuccessful Use of Tralokinumab in a Pediatric Patient With STAT3 Hyper-IgE Syndrome Following Dupilumab-Associated Conjunctivitis.
International journal of dermatologyUnderstanding and Managing Hyper IgE Syndromes.
ImmunoTargets and therapySTAT3 regulates NK and NKT cell differentiation through C-X3-C motif chemokine receptor 1 (CX3CR1) in hyper-IgE syndrome.
Molecular biomedicineObesity and hepatic steatosis in STAT3 hyper-IgE syndrome.
The journal of allergy and clinical immunology. In practiceAudiovestibular Dysfunction in Hyper-IgE Syndrome: A Systematic Review of Characteristics, Pathophysiology, Diagnosis, and Management.
International journal of molecular sciencesMetagenomic next-generation sequencing: a game-changer in the diagnosis of unique intraocular infections.
Eye (London, England)A Novel Hypomorphic STAT3 Gene Variant in a 7-year-old Male with Hyper-IgE Syndrome.
Journal of clinical immunologyCase Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype.
Frontiers in immunologyPulmonary manifestations in Hyper-IgE syndrome.
Respiratory medicinePediatric Severe Eosinophilia: Etiological Spectrum, Diagnostic Algorithm, and Case-Based Insights From a Tertiary Care Center.
International journal of laboratory hematologyImmunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.
Frontiers in immunologyThe prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study.
BMC immunologyHyper IgE Syndrome: Imaging Clues to Diagnosis.
Indian journal of pediatricsCase report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Frontiers in immunologyA multicenter evaluation of the Filariasis IgG4 Rapid Test for detection of lymphatic filariasis.
Acta tropicaLoss of Stat3 in Prx1+ Progenitors Impairs Molar Root Development.
Advanced biologyEosinophilic Pustular Folliculitis in a Child With Hyper-IgE Syndrome: A Case Report Emphasizing the Importance of Immunodeficiency Screening in Infancy.
The Journal of dermatologyExtensive Cellulitic Infection and Tissue Necrosis in a Patient With Hyper IgE Syndrome: Surgical Management of a Rare Immunodeficiency.
CureusEarly Postmenopausal Fragility Fractures and Elevated IgE: Two Cases Suggesting Hyper-IgE Syndrome and a Novel Adverse Reaction to Romosozumab.
Calcified tissue internationalSTAT3 haploinsufficiency is associated with autosomal dominant hyper-IgE syndrome.
Science advancesMouse Model of STAT3 Mutation Resulting in Job's Syndrome Diverges from Human Pathology.
International journal of molecular sciencesSignal Transducer and Activator of Transcription 3 (STAT3) Variant p.K709N Causes Hyper-IgE Syndrome Likely by Impaired STAT3-Dimer Formation.
European journal of immunologyCo-Existence of IL6ST and MEFV Pathogenic Variant in a Patient With Hyper-IgE Syndrome.
ImmunologyInfection prevention in patients with inborn errors of immunity: Insights from Japan's nationwide study.
Pediatrics international : official journal of the Japan Pediatric SocietyUpadacitinib for Treatment of Hyper-IgE Syndrome.
JAMA dermatologyPersistent Neutropenia and Atopy in an Adolescent: A Subtle Presentation of Phosphoglucomutase 3 Deficiency.
CureusHyper-IgE syndrome: A rare case report.
The journal of allergy and clinical immunology. GlobalHyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS.
Journal of translational autoimmunityBack With Vengeance: Delayed Gastrointestinal Sequelae of Histoplasmosis in a Patient With STAT3 Hyper-IgE Syndrome.
ACG case reports journalA case of ichthyosis prematurity syndrome mimicking hyper-IgE syndrome.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyGlobal Burden of Allergies: Mechanisms of Development, Challenges in Diagnosis, and Treatment.
Life (Basel, Switzerland)Allogeneic hematopoietic stem cell transplantation for STAT3 hyper-IgE syndrome: a worldwide study.
Blood advancesFine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.
JCI insightCase Report: Biliary hemorrhage by intrahepatic pseudoaneurysm and asymptomatic right coronary artery pseudoaneurysm in a patient with STAT3 hyper IgE syndrome.
Frontiers in immunologyEmpyema Necessitatis and Hyper IgE Syndrome: An Unusual Association.
Open respiratory archivesPulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature review.
Orphanet journal of rare diseasesHaploidentical stem cell transplantation in DOCK8 deficiency: a case report of successful outcomes.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisOmalizumab: a broader role in dermatology? Evidence and the road ahead.
Italian journal of dermatology and venereologyDermatologic presentations of hyper IgE syndrome in pediatric patients.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologySTAT3-Dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome.
American journal of respiratory and critical care medicineDominant-Negative Versus Gain-of-Function STAT3 Defects: A Systematic Review on Epidemiological, Clinical, Immunological, and Molecular Aspects.
The journal of allergy and clinical immunology. In practiceSevere Atopic Dermatitis: Clinical Confusion With Hyper IgE Syndrome.
CureusHyper-IgE Syndrome: A Case Report with Insights from Bioinformatics Analysis of Key Pathways and Genes.
Infection and drug resistanceHyper IgE Syndrome: Bridging the Gap Between Immunodeficiency, Atopy, and Allergic Diseases.
Current allergy and asthma reportsCoexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report.
Case reports in oncological medicinePulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.
Journal of clinical immunologyHuman inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study.
Frontiers in immunologyBreak through the mold: Hyper-IgE syndrome as a vehicle for invasive aspergillosis.
Respiratory medicine case reportsRelation between dysbiosis and inborn errors of immunity.
World journal of methodologyClinical and molecular profile of 20 patients with DOCK8 deficiency-a single-center experience from Southern India.
Immunologic researchDOCK8 gene mutation alters cell subsets, BCR signaling, and cell metabolism in B cells.
Cell death & diseasePulmonary manifestations in hyper IgE syndrome: A case series and review of Indian literature.
Lung India : official organ of Indian Chest SocietyPathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.
Life (Basel, Switzerland)Phenotypes of 126 Moroccan HIES patients according to NIH Score.
La Tunisie medicaleDOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome.
Clinical immunology (Orlando, Fla.)Low incidence of primary immunodeficiency-associated cancers in children at a tertiary care pediatric hospital in Pakistan: a blessing in disguise or wet behind the ears?
EcancermedicalscienceImprovement in Atopic Dermatitis and Recurrent Infection With Dupilumab in Children With Distinct Genetic Types of Hyper-IgE Syndrome: A Case Series and Literature Review.
Pediatric dermatologyRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergologie selectSyk protein inhibitors treatment for the allergic symptoms associated with hyper immunoglobulin E syndromes: A focused on a computational approach.
International journal of immunopathology and pharmacologyChallenges in diagnosing and managing hyper-IgE syndrome in a resource-limited setting: a case report.
Annals of medicine and surgery (2012)Unraveling the unphosphorylated STAT3-unphosphorylated NF-κB pathway in loss of function STAT3 Hyper IgE syndrome.
Frontiers in immunologyDysregulated Airway Host Defense in Hyper IgE Syndrome due to STAT3 Mutations.
bioRxiv : the preprint server for biologyComprehensive Multidisciplinary Management of Hyper-IgE Syndrome in an 11-Year-Old Female: A Pediatric Case Report.
CureusImmunoglobulin class-switch recombination: Mechanism, regulation, and related diseases.
MedCommNeutrophil-avid nanocarrier uptake by STAT3 dominant-negative hyper-IgE syndrome patient neutrophils.
Life science allianceIdentifying potentially undiagnosed individuals with hyper-IgE syndrome using a scoring system.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyObstructive uropathy in STAT 3 hyper immunoglobulin E syndrome: A 5 year old Middle Eastern boy.
Saudi medical journalFlow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.
Frontiers in immunologyExploring the Link Between Profuse Warts and Hyper-Immunoglobulin E (IgE) Syndrome: A Pediatric Case Report.
CureusAutosomal Recessive Hyper-IgE Syndrome in a Child With Beta Thalassemia Trait: A Case Report.
CureusA term infant with severe hypereosinophilia secondary to CMV infection and the STAT1 gene mutation: a case report : List of authors.
BMC pediatricsStaphylococcus aureus Serine protease-like protein A (SplA) induces IL-8 by keratinocytes and synergizes with IL-17A.
CytokineViral infections and inborn errors of immunity.
Current opinion in infectious diseasesExtracellular Vesicles based STAT3 delivery as innovative therapeutic approach to restore STAT3 signaling deficiency.
New biotechnologyResolving persistent air leaks associated with autosomal dominant hyper-IgE syndrome using one-way endobronchial valves: report of cases.
AME case reportsAn Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect.
Journal of clinical immunologyThe treatment efficacy of dupilumab in autosomal dominant hyper-immunoglobulin E syndrome with severe atopic dermatitis.
Asia Pacific allergyDifferential Diagnosis and Interdisciplinary Workup of a Pediatric Patient With an Unknown Immune Condition: Chronic Respiratory Distress Secondary to Viral Illness and Developmental Consequences.
CureusClinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyHyper-IgE syndrome: a case report.
Annals of medicine and surgery (2012)Hyper-IgE syndrome in an 11 year old female presenting with acneiform rash.
Skin health and diseaseGenetic Susceptibility to Fungal Infections.
Advanced biomedical researchThe Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Journal of clinical immunologyOmalizumab and dupilumab for the treatment of autosomal-recessive DOCK8 hyper-IgE syndrome.
Indian journal of dermatology, venereology and leprologySTAT3 Deficiency Alters the Macrophage Activation Pattern and Enhances Matrix Metalloproteinase 9 Expression during Staphylococcal Pneumonia.
Journal of immunology (Baltimore, Md. : 1950)Primary immunodeficiency diseases of adults: a review of pulmonary complication imaging findings.
European radiologyA systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome.
Clinical and experimental medicineIntraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.
Central-European journal of immunologyHyper IgE Syndrome With Multiple Respiratory Infections. Review About a Clinical Case.
Open respiratory archivesInterventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome.
BMC surgeryHyper IgE syndrome-related disease treated with dupilumab: A case report.
Clinical case reportsEfficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report.
CureusExpanding the clinical and immunological phenotype of prolidase deficiency: A case report.
Pediatric dermatologySingle-cell multi-omics sequencing reveals the immunological disturbance underlying STAT3-V637M Hyper-IgE syndrome.
International immunopharmacologyKawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications.
Diagnostics (Basel, Switzerland)The pulmonary effects of STAT3 deficiency.
The Journal of allergy and clinical immunologyAtypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients.
MicroorganismsSuccessful Use of Fosmanogepix for Treatment of Rare Highly Resistant Cutaneous Fusariosis in a Pediatric Patient With STAT3 Hyper-Immunoglobulin E Syndrome and End-Stage Kidney Disease.
Open forum infectious diseasesNew Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
Journal of clinical immunologyIntrapleural therapy for pleural infection from bronchopleural fistula in an adult with hyper-IgE syndrome.
Respirology case reportsQuality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home.
Journal of clinical immunologySuccessful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors.
International journal of hematologyIn Silico Analyses of All STAT3 Missense Variants Leading to Explore Divergent AD-HIES Clinical Phenotypes.
Evolutionary bioinformatics onlineMicrobiome and Its Dysbiosis in Inborn Errors of Immunity.
Pathogens (Basel, Switzerland)Hyper-IgE syndrome presenting with early life craniosynostosis in monozygotic twin sisters.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyLoss of Stat3 in Osterix+ cells impairs dental hard tissues development.
Cell & bioscienceDisseminated Talaromyces marneffei Infection With STAT3-Hyper-IgE Syndrome: A Case Series and Literature Review.
Open forum infectious diseasesHematopoietic stem cell Transplantation in Children with very Early Onset Inflammatory Bowel Disease Secondary to Monogenic Disorders of immune-dysregulation.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionA Young Woman with Autosomal Dominant Hyper Immunoglobulin E (job's) Syndrome Presenting with Acute Abdomen: a Case Report.
Medical archives (Sarajevo, Bosnia and Herzegovina)[Combined immunodeficiency due to DOCK8 deficiency. State of the art].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Germline Mosaicism in STAT3: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome.
Dermatitis : contact, atopic, occupational, drugLupus Nephritis in an Adolescent Girl With Hyper-Immunoglobulin E.
CureusIdiopathic non-cirrhotic portal hypertension in a patient with Talaromyces marneffei infection: a case report.
BMC infectious diseasesFood Allergy Characteristics Associated With Coexisting Eosinophilic Esophagitis in FARE Registry Participants.
The journal of allergy and clinical immunology. In practiceMulti-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.
International journal of molecular sciencesDupilumab zur Behandlung von Genodermatosen: Eine systematische Übersicht.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGDupilumab in the treatment of genodermatosis: A systematic review.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGSTAT3 mutation-associated airway epithelial defects in Job syndrome.
The Journal of allergy and clinical immunologyAutoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome.
Immunologic researchDominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.
Frontiers in immunologySTAT6 gain-of-function variant exacerbates multiple allergic symptoms.
The Journal of allergy and clinical immunologyPrimary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome.
Journal of clinical immunologyThe signal transducer and activator of transcription 3 at the center of the causative gene network of the hyper-IgE syndrome.
Current opinion in immunologyAntibody deficiencies with normal IgG in adults with Non-cystic fibrosis bronchiectasis or recurrent pneumonia: Cross-sectional study.
Colombia medica (Cali, Colombia)Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells.
GenesA challenging differential diagnosis in a patient with autosomal dominant STAT3 deficiency.
Pediatric pulmonologyEosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry.
Frontiers in immunologyInborn errors of immunity and related microbiome.
Frontiers in immunologyTreosulfan-based Reduced-intensity Allogeneic Hematopoietic Cell Transplantation in Adults With Primary Immunodeficiency: A Case Series.
Anticancer researchDisseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation-Case Report.
Journal of clinical immunologyImmunoglobulin Disorders and the Oral Cavity: A Narrative Review.
Journal of clinical medicineA progressing inflammatory pulmonary infiltrate in a patient with hyper IgE syndrome.
SAGE open medical case reportsMain human inborn errors of immunity leading to fungal infections.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious DiseasesBeyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.
Frontiers in pediatricsSTAT3-confusion-of-function: Beyond the loss and gain dualism.
The Journal of allergy and clinical immunologyClearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab.
Pediatric dermatologyUtility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Scientific reports[Hyper-IgE syndrome in adults characterized by disseminated mixed infection: a case report and literature review].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesMolecular Assessment of Staphylococcus Aureus Strains in STAT3 Hyper-IgE Syndrome Patients.
Journal of clinical immunologyHyper-IgE and Carcinoma in CADINS Disease.
Frontiers in immunologyInborn errors of immunity underlying a susceptibility to pyogenic infections: from innate immune system deficiency to complex phenotypes.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious DiseasesOmalizumab for STAT3 Hyper-IgE Syndromes in Adulthood: A Case Report and Literature Review.
Frontiers in medicineAn unusual cause of facial wound in a child: Hyper IgE syndrome-associated Noma neonatorum.
International wound journalRemission of eczema and recovery of Th1 polarization following treatment with Dupilumab in STAT3 hyper IgE syndrome.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyHyper-IgE syndrome caused by DOCK8 mutation with a tumour-like lesion of the lip: a case report.
International journal of oral and maxillofacial surgeryProteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.
Frontiers in allergyCRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome.
Frontiers in genome editingBronchial inflammation biomarker patterns link humoral immunodeficiency with bronchiectasis-related small airway dysfunction.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologyA 36-year-old pregnant woman with hyperimmunoglobulinemia E.
Ginekologia polskaSuccessful Management of Mixed Mycosis in HIV-Negative Patients With Different Immune Status: A Case Series Report.
Frontiers in cellular and infection microbiologyRecurrent Breast Abscesses in a Female with Autosomal Dominant Hyper-IgE Syndrome.
Journal of clinical immunologyHyper IgE Syndrome in an Isolated Population in Israel.
Frontiers in immunologyMalignancy in STAT3 Deficient Hyper IgE Syndrome.
Journal of clinical immunologyRecurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome.
Journal of pediatric geneticsChronic pulmonary aspergillosis in a patient with hyper-IgE syndrome.
Respirology case reportsEssential Role of STAT3 Signaling in Hair Follicle Homeostasis.
Frontiers in immunologyManagement of Peripheral T-Cell Lymphoma in Children and Adolescents Including STAT 3 Mutation Hyper-IgE Syndrome: One Size Does Not Fit All.
Journal of pediatric hematology/oncologyPatient with atopic dermatitis, hyper IgE syndrome and ulcerative colitis, treated successfully with dupilumab during pregnancy.
Dermatologic therapyDefective Toll-Like Receptors Driven B Cell Response in Hyper IgE Syndrome Patients With STAT3 Mutations.
Frontiers in pediatricsThe Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
Journal of clinical immunologyInborn errors of immunity: Recent progress.
The Journal of allergy and clinical immunologyCase Report: Dupilumab Successfully Controls Severe Eczema in a Child With Elevated IgE Levels and Recurrent Skin Infections.
Frontiers in pediatricsA Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years.
Frontiers in immunologyHyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.
Journal of clinical immunologyProfound differences in IgE and IgG recognition of micro-arrayed allergens in hyper-IgE syndromes.
AllergyVery Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases.
Case reports in immunologyNovel mutations of TYK2 leading to divergent clinical phenotypes.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyRelieving job: Dupilumab in autosomal dominant STAT3 hyper-IgE syndrome.
The journal of allergy and clinical immunology. In practiceRare clinical presentations of hyper-IgE syndrome in a patient with dental abnormalities: A case report.
Clinical case reportsOne Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.
Frontiers in immunologyHyper-IgE syndrome, 2021 update.
Allergology international : official journal of the Japanese Society of AllergologyInvestigating the Variation of TREC/KREC in Combined Immunodeficiencies.
Iranian journal of allergy, asthma, and immunologyDupilumab for STAT3-Hyper-IgE Syndrome With Refractory Intestinal Complication.
PediatricsGenetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Journal of clinical immunology[Hyper IgE syndrome: atopic dermatitis as first manifestation. Case report].
Archivos argentinos de pediatriaAutosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report.
BMC neurologyTreatment of severe atopic dermatitis and eosinophilic esophagitis with dupilumab in a 14-year-old boy with autosomal dominant hyper-IgE syndrome.
The journal of allergy and clinical immunology. In practiceOne-year intravenous immunoglobulin replacement therapy: efficacy in reducing hospital admissions in pediatric patients with Inborn Errors of Immunity.
Jornal de pediatriaCase Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Frontiers in immunologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities.
- Non-syndromic hyper-IgE in children: A practical approach.
- Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.
- Orbital Abscess in an Infant With STAT3 Hyper-IgE Syndrome.
- Neutrophil hyperresponsiveness contributes to lung pathology in STAT3V463Δ mice.
- STAT3 isoform dynamics reveal robust splice ratio maintenance across cytokine-activated human immune cells.
- STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.
- Dock8 regulates Th2 cell differentiation through ANXA1.
- An Infant With Hyper IgE Syndrome Mimicking Acute Leukemia.
- A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:331223(Orphanet)
- MONDO:0018037(MONDO)
- GARD:10956(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787700(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
