Hyper IgE syndromes: clinical and molecular characteristics

Al‐Shaikhly, Taha; Ochs, Hans D.

doi:10.1111/imcb.12209

Cited by 103 publications

(109 citation statements)

References 64 publications

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“…Изменение состояния костей и резорбтивные изменения также относятся к числу характерных клинических проявлений аутосомно-доминантного гипер-IgE-синдрома [27]. Это объясняется нарушением гомеостаза костной ткани, в поддержании которого принимают участие цитокины семейства IL-6, так как…”

Section: описание клинического случаяunclassified

Treatment approaches to hyper-IgE syndrome: a clinical case report

Кантулаева

Kuzmenko

Deripapa

et al. 2019

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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The hyper-IgE syndrome with dominant-negative mutations in signal transducer and activator of transcription 3 (STAT3) gene is a combined primary immunodeficiency characterized by severe bacterial infections (skin and lungs with bullae formation), characteristic phenotype, serum IgE elevation, eosinophilia, as well as connective tissue, and bone anomalies. Patients also have high risk of cancer. STAT3 is a transcription factor important for the JAK/STAT signaling pathway, which plays the key role in the synthesis of cytokines, hormones, and bioactive agents. Hyper-IgE syndrome therapy includes antimicrobial prophylaxis, immunoglobulin replacement, and use of bisphosphonates. Hematopoietic stem cell transplantation is an alternative way for the disease treatment. Here we describe a patient with severe autosomal dominant hyper-IgE-syndrome with thte loss-of-function mutation in the STAT3 gene. Patient's parents agreed to use personal dats and photos in research and publications.

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Section: описание клинического случаяunclassified

Treatment approaches to hyper-IgE syndrome: a clinical case report

Кантулаева

Kuzmenko

Deripapa

et al. 2019

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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“…STAT3-HIES was first described as Job syndrome in 1966, and it is characterized by eczematous dermatitis, recurrent skin and pulmonary abscesses and elevated serum IgE levels [ 2 – 4 ]. Non-immunological abnormalities are bone abnormalities, retention of the primary teeth, specific facial features and lack of growth [ 5 ]. There is no predominant sex or ethnicity among STAT3-HIES patients [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

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

Wang

Sun

Liu

et al. 2020

Allergy Asthma Clin Immunol

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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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“…STAT3-HIES was rst described as Job syndrome in 1966, and it is characterized by eczematous dermatitis, recurrent skin and pulmonary abscesses and elevated serum IgE levels [2][3][4]. Non-immunological abnormalities are bone abnormalities, retention of the primary teeth, speci c facial features and lack of growth [5]. There is no predominant sex or ethnicity among STAT3-HIES patients [6].…”

Section: Introductionmentioning

confidence: 99%

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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Hyper IgE syndromes: clinical and molecular characteristics

Cited by 103 publications

References 64 publications

Treatment approaches to hyper-IgE syndrome: a clinical case report

Treatment approaches to hyper-IgE syndrome: a clinical case report

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

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

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