2018
DOI: 10.1111/imcb.12209
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Hyper IgE syndromes: clinical and molecular characteristics

Abstract: Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders. However, several other genetically characterized immunodeficiency disorders have been identifie… Show more

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Cited by 107 publications
(109 citation statements)
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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
“…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
“…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%
“…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%