scholarly journals Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Lixin Xie ◽  
Xiaoxiang Hu ◽  
Yang Li ◽  
Weihua Zhang ◽  
Liang'an Chen
Keyword(s):  
Autosomal Dominant ◽  
Immunoglobulin E ◽  
Mainland China ◽  
High Serum ◽  
Deciduous Teeth ◽  
Autosomal Dominant Trait ◽  
Hyper Ige Syndrome ◽  
Stat3 Mutation ◽  
Transcription 3 ◽  
Human Signal

Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene. In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members.

NATAL AND NEONATAL TEETH

PEDIATRICS ◽  
1963 ◽  
Vol 32 (6) ◽  
pp. 1087-1093
Author(s):  
Jessie Bodenhoff ◽  
Robert J. Gorlin
Keyword(s):  
Cleft Lip ◽  
Root Formation ◽  
Autosomal Dominant ◽  
Deciduous Teeth ◽  
Autosomal Dominant Trait ◽  
Natal Teeth ◽  
History Of ◽  
Ellis Van Creveld Syndrome ◽  
Pachyonychia Congenita ◽  
Mandibular Incisors

The occurrence of natal and/or neonatal teeth is a rare anomaly, which for centuries has been associated with diverse superstitions among many different ethnic groups. The incidence of natal and/or neonatal teeth is far more frequent than previously supposed. Review of 359 recorded cases suggests an incidence of at least 1 in 3,000 births. Natal teeth are more frequent than neonatal teeth, the ratio being approximately 3 to 1. Rarely, a child will exhibit both natal and neonatal teeth. There appears to be no sex preference. Most frequently (ca. 85% of the cases), the natal or neonatal teeth are the deciduous mandibular incisors. In almost 90% of the cases, the teeth are of the normal deciduous complement. The rest are supernumerary. In about 60% of the cases, both of the natal and/or neonatal mandibular incisors erupt prematurely. Occasionally, a child may be born with a considerable number of his deciduous teeth erupted. Several such cases have been cited. About 70% of the natal and/or neonatal teeth are firmly fixed but a small number subsequently become loose. Similarly, a small fraction of those initially loose become fixed. Though the etiology is not known, approximately 15% had parents, siblings, or other near relatives with a history of natal and/or neonatal teeth. In several well-documented cases, the inheritance pattern has been that of an autosomal dominant trait. Three syndromes have been associated with natal teeth: (a) chondroectodermal dysplasia or Ellis-van Creveld syndrome, (b) oculo-mandibulo-dyscephaly with hypotrichosis or Hallermann-Streiff syndrome, and (c) pachyonychia congenita or Jadassohn-Lewandowski syndrome. Natal teeth may also be associated with cleft lip, cleft palate and cyclopia. Histologic investigation has revealed a failure of root formation despite eruption, a large vascular pulp, irregular genesis of dentin and a failure of cementum formation.

scholarly journals Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Cesar Daniel Alonso-Bello ◽  
María del Carmen Jiménez-Martínez ◽  
María Eugenia Vargas-Camaño ◽  
Sagrario Hierro-Orozco ◽  
Mario Alberto Ynga-Durand ◽  
...  
Keyword(s):  
Immunoglobulin E ◽  
High Serum ◽  
Recurrent Infections ◽  
Dominant Form ◽  
Cutaneous Manifestations ◽  
Serum Ige ◽  
Hyper Ige Syndrome ◽  
Stat3 Phosphorylation ◽  
Eczematous Dermatitis ◽  
Pulmonary Abnormalities

Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by elevated levels of immunoglobulin E (IgE), eczematous dermatitis, cold abscesses, and recurrent infections of the lung and skin caused by Staphylococcus aureus. The dominant form is characterized by nonimmunologic features including skeletal, connective tissue, and pulmonary abnormalities in addition to recurrent infections and eczema. Omalizumab is a humanized recombinant monoclonal antibody against IgE. Several studies reported clinical improvement with omalizumab in patients with severe atopic eczema with high serum IgE level. We present the case of a 37-year-old male with HIES and cutaneous manifestations, treated with humanized recombinant monoclonal antibodies efalizumab and omalizumab. After therapy for 4 years, we observed diminished eczema and serum IgE levels.

scholarly journals Hyper IgE syndrome (hies; job syndrome): A case report

2015 ◽  
Vol 05 (04) ◽  
pp. 099-101
Author(s):  
Priyanka Ameta ◽  
Anuj Dhyani ◽  
Vignesh Hebri Nayak ◽  
Suresh Goyal
Keyword(s):  
Immunoglobulin E ◽  
Serum Levels ◽  
High Serum ◽  
Facial Appearance ◽  
Oral Manifestations ◽  
Pulmonary Infections ◽  
Primary Immunodeficiency Disorder ◽  
Hyper Ige Syndrome ◽  
Immunodeficiency Disorder ◽  
Job Syndrome

AbstractThe hyper-immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder characterized by high serum levels of immunoglobulin E (IgE), recurrent cutaneous and pulmonary infections, chronic dermatitis and a variety of connective tissue and skeletal abnormalities. These patients share characteristic facial appearance and many oral manifestations. We report a case of hyper IgE syndrome (HIES) also known as “Job syndrome“.

scholarly journals On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Snezhina Mihailova Kandilarova ◽  
Spaska Stoyneva Lesichkova ◽  
Nevena Todorova Gesheva ◽  
Petya Stefanova Yankova ◽  
Nedelcho Hristov Ivanov ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Clinical Course ◽  
Dna Binding Domain ◽  
Disease Course ◽  
Immunological Parameters ◽  
Laboratory Findings ◽  
Hyper Ige Syndrome ◽  
Stat3 Mutation

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare disease described in 1966. It is characterized by severe dermatitis, a peculiar face, frequent infections, extremely high levels of serum IgE and eosinophilia, all resulting from a defect in the STAT3 gene. A variety of mutations in the SH2 and DNA-binding domain have been described, and several studies have searched for associations between the severity of the clinical symptoms, laboratory findings, and the type of genetic alteration. We present two children with AD-HIES–a girl with the most common STAT3 mutation (R382W) and a boy with a rare variant (G617E) in the same gene, previously reported in only one other patient. Herein, we discuss the clinical and immunological findings in our patients, focusing on their importance on disease course and management.

scholarly journals Signal Transducer and Activator of Transcription 3 Mutation with Invasive Eosinophilic Disease

2012 ◽  
Vol 3 (2) ◽  
pp. ar.2012.3.0035 ◽  
Author(s):  
Kara Crosby ◽  
David Swender ◽  
Leah Chernin ◽  
Said Hafez-Khayyata ◽  
Hans Ochs ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Normal Population ◽  
Signal Transducer ◽  
Hyper Ige Syndrome ◽  
Cell Processes ◽  
Sporadic Cases ◽  
Stat3 Mutation ◽  
Blood Eosinophils ◽  
Transcription 3 ◽  
Stat3 Mutations

Hyper-IgE syndrome (HIES), or Jobs disease, is a rare immunologic disorder characterized by the triad of staphylococcal abscesses, pneumonia with pneumatocele formation, and elevated IgE. It has been shown to have multiple modes of inheritance, autosomal dominant being more common than autosomal recessive, with sporadic cases as well. A mutation in signal transducer and activator of transcription 3 (STAT3) gene has been linked to the development of the sporadic and dominant forms of HIES. Peripheral eosinophilia, typically greater than two standard deviations from the normal population, is often seen in association with HIES. Despite these elevated levels of blood eosinophils, there have been no reported cases of invasive eosinophilic disease, such as eosonophilic esophagitic. Here we report the first description, to our knowledge, of a patient with HIES with a STAT3 mutation involving exon 12, Thr389Ile, and invasive eosinophilic disease of the esophagus. STAT3 modulates the expression of several genes that control central cell processes such as growth and death in response to external soluble stimuli. A mutation in the STAT3 molecule may affect the eosinophil's response to IL-5 and thus reduce the chemotaxic ability of those cells to migrate into tissues. This may then explain the paucity of eosinophilic infiltrative disease in patients with STAT3 mutations. The level of eosinophilic involvement may be related to the site or type of mutation within the STAT3 molecule. As more data are collected, we may be able to assess whether certain mutations dictate different clinical outcomes, which could prove helpful in directing therapy.

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