Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8
In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia,...
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| Format: | Article |
| Language: | English |
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Colegio Mexicano de Inmunología Clínica y Alergia, A.C.
2016-10-01
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| Series: | Revista Alergia México |
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| Online Access: | http://revistaalergia.mx/ojs/index.php/ram/article/view/217 |
| _version_ | 1797716031876104192 |
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| author | Julio César Alcántara-Montiel Brittany Itzel Vega-Torres |
| author_facet | Julio César Alcántara-Montiel Brittany Itzel Vega-Torres |
| author_sort | Julio César Alcántara-Montiel |
| collection | DOAJ |
| description | In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia, recurrent skin abscesses, pneumonia, lung parenchyma lesions, recurrent infections, rashes in newborns, eczema, sinusitis, otitis, and mucocutaneous candidiasis. Hyper-IgE syndrome can be transmitted by autosomal dominant or autosomal recessive modes of inheritance. Hyper-IgE syndrome in its dominant form includes non-immunological manifestations like characteristic facies, pathological dentition, scoliosis, bone disorders, and joint hyperextensibility. The reported cause of the dominant form is the loss of function of the signal transducer and activator of transcription 3 (STAT-3, with MIM # 102582). Mutations in dedicator of cytokines 8 (DOCK-8) is the most common cause of the autosomal recessive form of hyper-IgE syndrome. |
| first_indexed | 2024-03-12T08:15:32Z |
| format | Article |
| id | doaj.art-1cd86ddf92934b4f98a34ef340e793fb |
| institution | Directory Open Access Journal |
| issn | 0002-5151 2448-9190 |
| language | English |
| last_indexed | 2024-03-12T08:15:32Z |
| publishDate | 2016-10-01 |
| publisher | Colegio Mexicano de Inmunología Clínica y Alergia, A.C. |
| record_format | Article |
| series | Revista Alergia México |
| spelling | doaj.art-1cd86ddf92934b4f98a34ef340e793fb2023-09-02T18:52:55ZengColegio Mexicano de Inmunología Clínica y Alergia, A.C.Revista Alergia México0002-51512448-91902016-10-0163438539610.29262/ram.v63i4.217156Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8Julio César Alcántara-Montiel0Brittany Itzel Vega-Torres1Universidad Nacional Autónoma de México, Facultad de Estudios Superiores Zaragoza, Facultad de Medicina, Ciudad de MéxicoUniversidad Nacional Autónoma de México, Facultad de Estudios Superiores Zaragoza, Facultad de Química, Ciudad de México,In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia, recurrent skin abscesses, pneumonia, lung parenchyma lesions, recurrent infections, rashes in newborns, eczema, sinusitis, otitis, and mucocutaneous candidiasis. Hyper-IgE syndrome can be transmitted by autosomal dominant or autosomal recessive modes of inheritance. Hyper-IgE syndrome in its dominant form includes non-immunological manifestations like characteristic facies, pathological dentition, scoliosis, bone disorders, and joint hyperextensibility. The reported cause of the dominant form is the loss of function of the signal transducer and activator of transcription 3 (STAT-3, with MIM # 102582). Mutations in dedicator of cytokines 8 (DOCK-8) is the most common cause of the autosomal recessive form of hyper-IgE syndrome.http://revistaalergia.mx/ojs/index.php/ram/article/view/217Inmunodeficiencia primariaDOCK-8Síndrome hiper-IgESTAT-3 |
| spellingShingle | Julio César Alcántara-Montiel Brittany Itzel Vega-Torres Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8 Revista Alergia México Inmunodeficiencia primaria DOCK-8 Síndrome hiper-IgE STAT-3 |
| title | Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8 |
| title_full | Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8 |
| title_fullStr | Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8 |
| title_full_unstemmed | Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8 |
| title_short | Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8 |
| title_sort | hyper ige syndrome lessons from function and defects of stat 3 or dock 8 |
| topic | Inmunodeficiencia primaria DOCK-8 Síndrome hiper-IgE STAT-3 |
| url | http://revistaalergia.mx/ojs/index.php/ram/article/view/217 |
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