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

Wu, Jing; Chen, Ji; Tian, Zhi-Qing; Zhang, Hao; Gong, Ruo-Lan; Chen, Tongxin; Hong, Li

doi:10.1007/s10875-017-0369-7

Cited by 41 publications

(69 citation statements)

References 41 publications

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“…In HIES unspecified, 4/7 patients with a papulopustular eruption had a positive S. aureus culture . S. aureus was also found positive in patients with AD‐HIES and a papulopustular rash (2/5), eczematous dermatitis (20/20), cold abscesses (20/20), or wounds (3/4) . Renner et al described that skin abscesses were frequently due to S. aureus infections in AR‐HIES.…”

Section: Resultsmentioning

confidence: 97%

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Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data

Wit

Brada

Veldhuizen

et al. 2018

Allergy

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Primary immunodeficiency diseases (PIDs) are characterized by an increased risk of infections, autoimmunity, autoinflammation, malignancy, and allergic disorders. Skin disorders are also common clinical features in PIDs and may be among the presenting manifestations. Recognition of specific PID-associated skin conditions in combination with other clinical features as described in the currently used warning signs could raise suspicion of an underlying PID. We aimed to provide a systematically obtained overview of skin disorders and their prevalence in PIDs. Secondary, the prevalence of Staphylococcus (S.) aureus-associated skin disorders and atopy was reviewed, as these are the most prominent skin features in PIDs. A systematic search was performed in EMBASE, MEDLINE, Web of Science, Cochrane, and Google Scholar (up to May 9, 2018). All original observational and experimental human studies that address the presence of skin disorders in PIDs were selected. We rated study quality using the Institute of Health Economics Quality Appraisal Checklist for Case Series Studies. Sixty-seven articles (5030 patients) were included. Study quality ranged from 18.2% to 88.5%. A broad spectrum of skin disorders was reported in 30 PIDs, mostly in single studies with a low number of included patients. An overview of associated PIDs per skin disorder was generated. Data on S. aureus-associated skin disorders and atopy in PIDs were limited. In conclusion, skin disorders are prominent features in PIDs. Through clustering of PIDs per skin disorder, we provide a support tool to use in clinical practice that should raise awareness of PIDs based on presenting skin manifestations.

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Section: Resultsmentioning

confidence: 97%

“…Cohen et al found no atopy in patients with AT. In HIES unspecified, AD‐HIES and AR‐HIES, all of the atopic symptoms, if reported, were present in about half of the patients . Renner et al described the presence of atopy in most Comèl‐Netherton patients.…”

Section: Resultsmentioning

confidence: 99%

Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data

Wit

Brada

Veldhuizen

et al. 2018

Allergy

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“…The diverse but generally young age of clinical onset makes the diagnosis of STAT3-HIES di cult. Our patients had an earlier age at initial diagnosis (4.74 years) than that reported in Chinese patients in 2017 (10.35 years) [11], which may be due to the increased awareness of STAT3-HIES and enhanced next-generation sequencing technology in recent years. We highlight the value of WES in diagnosing STAT3-HIES.…”

Section: Discussionmentioning

confidence: 47%

“…Congenital defects, such as atrial septal defects, laryngeal clefts and cryptorchidism, occurred to different degrees. In contrast to two large-scale STAT3-de cient cohort studies in China [11,12,23], few patients had the classic nonimmunological features, including particular facial features and dental and developmental abnormalities. This was a retrospective analysis; doctors are likely to overlook some slight facial changes, and many patients were young when they rst visited our hospital.…”

Section: Discussionmentioning

confidence: 62%

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

Lin

Wang

Sun

et al. 2020

Preprint

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Background: Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) is one of the causes of STAT3 hyperimmunoglobulin E (IgE) syndrome (STAT3-HIES), while gain-of-function (GOF) mutations in STAT3 lead to immune dysregulation diseases. We retrospectively analyzed the age, common clinical symptoms, immunologic and molecular manifestations in 11 patients with LOF STAT3 mutations and 1 patient with a GOF STAT3 mutation.Methods: Twelve patients were enrolled in our study. Serum immunoglobulin measurements, lymphocyte subset detection and whole-exome sequencing were performed.Results: The median age at diagnosis of STAT3-HIES patients was 4.74 years. Eczema, recurrent respiratory infections, fevers, abscesses and Staphylococcus aureus infections were the classic manifestations. Elevated serum IgE levels are not always observed in conjunction with high eosinophil counts. A moderate viral DNA load was also measured in peripheral blood mononuclear cells. We noticed that c. 1144C>T was the most common mutation site, followed by c.1311C>A. Additionally, c.1311C>A and c. 1826G>C are two novel mutations. Eight patients achieved notable improvement after receiving intravenous immunoglobulin. Conclusion: We updated the current knowledge of this topic. We found an earlier median age at diagnosis, a higher survival rate, and a general lack of nonimmunological abnormalities; we also described the treatment details and novel mutations involve in STAT3-HIES and compared STAT3 LOF and GOF mutations.

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“…The skin barrier function in the AD-HIES patients is not impaired, in contrast with the AD patients that experience changes of skin barrier function [28]. AD-HIES affects not only the immune system but also connective tissue, skeleton, and dental development [29]. Distinctive facial features are a characteristic feature of this syndrome.…”

Section: Hyper-ige Syndrome (Job's Syndrome)mentioning

confidence: 99%

Allergic Manifestations of Primary Immunodeficiency Diseases and Its Treatment Approaches

Boyarchuk

2018

Asian J Pharm Clin Res

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Allergic manifestations are one of the clinical signs of primary immunodeficiency diseases (PID). In this review, the common allergic manifestations of PID are summarized, and their main differential characteristics and treatment approaches are outlined. Allergic manifestations occur more often in patients with combined immunodeficiencies with or without associated or syndromic features. In patients with PID they usually are present in the 1st year of life, may be among the first symptoms of PID, and are commonly manifested by eczema and increased immunoglobulin (Ig)-G levels. Often the skin barrier function is not impaired in patients with eczema and PID, although some diseases (such as Comel-Netherton syndrome) do affect skin barrier function. There is usually no correlation between IgE levels and the severity of allergic skin manifestations. Allergic-like manifestations in PID patients include urticaria-like rash and angioedema. Urticaria-like rash is associated with autoinflammatory disorders, which are commonly accompanied by fever, and caused by a neutrophilic infiltrate in the dermis. Angioedema in hereditary angioedema patients is caused by high bradykinin production. Early differentiation of allergic manifestations in PID from atopic dermatitis and other atopic conditions is very difficult; however, it is very important because it influences on treatment methods. A multidisciplinary approach to the management of PID patients, with the involvement of immunologists, allergists, and formulation of appropriate treatment improve the prognosis and quality of life of the PID patients.

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

Cited by 41 publications

References 41 publications

Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data

Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data

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

Allergic Manifestations of Primary Immunodeficiency Diseases and Its Treatment Approaches

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