A Novel STAT3 Mutation in a Patient with Hyper-IgE Syndrome Diagnosed with a Severe Necrotizing Pulmonary Infection

The hyper-IgE syndrome (HIES) is a rare disorder characterized by pruritic dermatitis, recurrent Staphylococcus skin abscesses and extremely elevated levels of IgE in serum. In this report, an elevenyear-old-boy with hyper-IgE syndrome is presented. He had a coarse facial appearance, pruritic dermatitis, recurrent skin abscesses, pulmonary infection, a reduced rate of resorption of the roots of primary teeth and an elevated serum IgE concentration. The colonization of Candida albicans, Kiebsiella pneumoniae, Escherichia coli and Staphylococcus aureus were found as; (1x102 CFU), (2.2x104 CFU), (2.2x104 CFU) and (2.6x103 CFU) per ml saliva, respectively. Also the pulp of a deciduous molar was investigated with light and transmission electron microscope (TEM). As conclusion, treatment for this condition is lifelong administration of therapeutic doses of a penicillinase-resistant penicillin, with the addition of other antibiotics or anti-fungal agents as required for specific infections.

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RESPONSES TO PNEUMOCOCCAL INFECTION AND IMMUNIZATION IN MICE WITH A STAT3 MUTATION RECAPITULATING AUTOSOMAL DOMINANT HYPER IGE SYNDROME (AD-HIES)

10.26226/morressier.5731f0d5d462b8029237fb6a ◽

2016 ◽

Author(s):

Kristin Moffitt

Keyword(s):

Autosomal Dominant ◽

Pneumococcal Infection ◽

Hyper Ige Syndrome ◽

Stat3 Mutation

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Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India

Asian Pacific Journal of Allergy and Immunology ◽

10.12932/ap0456.32.4.2014 ◽

2014 ◽

Vol 32 (4) ◽

Cited By ~ 1

Author(s):

Biman Saiki

Keyword(s):

Single Center ◽

Hyper Ige Syndrome ◽

Single Center Study ◽

Stat3 Mutation ◽

Center Study

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Rapid and precise diagnosis of T. marneffei pulmonary infection in a HIV-negative patient with autosomal-dominant STAT3 mutation: a case report

Therapeutic Advances in Respiratory Disease ◽

10.1177/1753466620929225 ◽

2020 ◽

Vol 14 ◽

pp. 175346662092922

Author(s):

Wei Zhang ◽

Jian Ye ◽

Chenhui Qiu ◽

Limin Wang ◽

Weizhong Jin ◽

...

Keyword(s):

Pulmonary Infection ◽

Opportunistic Pathogen ◽

Lavage Fluid ◽

Human Beings ◽

Immunodeficiency Virus ◽

Precise Diagnosis ◽

Stat3 Mutation ◽

Next Generation Sequencing Ngs ◽

Transcription 3 ◽

Hiv Negative

Background: Talaromyces marneffei, also named Penicillium marneffei, is an opportunistic pathogen that can cause systemic or limited infection in human beings. This infection is especially common in human immunodeficiency virus (HIV)-infected hosts; however, it has also been recently reported in HIV-negative hosts. Here, we report a very rarely seen case of T. marneffei pulmonary infection in a non-HIV-infected patient with signal transducer and activator of transcription 3 ( STAT3) mutation. Case presentation: A 34-year-old woman was admitted to our hospital for uncontrollable nonproductive cough and dyspnea with exercise. She had been immunocompromised since infancy. Computerized tomography scan showed multiple ground glass opacities with multiple bullae in both lungs. Next generation sequencing (NGS) of the bronchoalveolar lavage fluid identified T. marneffei nucleotide sequences. Culture of bronchoscopy specimens further verified the results. The patient was HIV negative, and blood gene detection indicated STAT3 mutation. To date, following the application of itraconazole, the patient has recovered satisfactorily. Conclusion: In clinical practice, T. marneffei infection among HIV-negative individuals is relatively rare, and we found that patients who are congenitally immunocompromised due to STAT3 mutation may be potential hosts. Early diagnosis and timely treatment are expected to improve the prognosis of T. marneffei infection. NGS is a powerful technique that may play an important role in this progress. The reviews of this paper are available via the supplemental material section.

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

Clinical and Developmental Immunology ◽

10.1155/2010/289873 ◽

2010 ◽

Vol 2010 ◽

pp. 1-5 ◽

Cited By ~ 7

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.

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