NDLI: Novel STAT3 Mutation Causing Hyper-IgE Syndrome: Studies of the Clinical Course and Immunopathology

Content Provider	Springer Nature Link
Author	Sundin, Mikael Tesi, Bianca Sund Böhme, Maria Bryceson, Yenan T. Pütsep, Katrin Chiang, Samuel C. Thunberg, Sarah Winiarski, Jacek Wikström, Ann Charlotte
Copyright Year	2014
Abstract	Reporting a clinical case with a novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene resulting in autosomal dominant hyper-immunoglobulin E syndrome (AD-HIES). Here we also had the opportunity to perform in-depth immunologic investigations to further understand the immunopathology of this primary immunodeficiency.The patient, a baby boy, was clinically assessed according to the scoring system developed by Grimbacher et al. and STAT3 was investigated by DNA sequencing. Immunologic work-up consisted of lymphocyte phenotyping and proliferation assays, measurement of soluble mediators and routine investigations.According to the Grimbacher score the patient was likely to have AD-HIES and a novel heterozygous STAT3 mutation (c.1110-3C>A), causing a splice error, was identified. Lymphocyte phenotyping revealed decreased numbers of interleukin (IL)-17 producing T-helper lymphocytes and aberrant B-lymphocyte subsets. Proliferative in vitro lymphocyte responses against C. albicans, staphylococcal enterotoxins and pokeweed mitogen were supernormal at presentation, whereas only the elevated response to pokeweed mitogen persisted. The soluble mediators IL−5, −10, −12, −13, −15 and granulocyte colony stimulatory factor were elevated in serum.A novel heterozygous STAT3 mutation causing defective splicing of exon 12 was identified. Lymphocyte phenotyping revealed deranged subpopulations. Despite the clinical picture with severe C. albicans and staphylococcal infections, the patient’s lymphocytes mounted responses to these pathogens. The hypereosinophilia and high immunoglobulin E levels might partly be explained by elevated IL−5 and −13 as a result of lack of negative feedback from defective STAT3 signaling.
Starting Page	469
Ending Page	477
Page Count	9
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	34
Issue Number	4
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2014-03-14
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Job’s Syndrome immunodeficiency Th17 Immunology Infectious Diseases Internal Medicine Medical Microbiology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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