Hyper-Immunoglobulin E Syndrome: Case Series of 6 Children from India
Hyper-immunoglobulin E syndrome is a rare primary immunodeficiency syndrome characterized by severe atopic dermatitis, recurrent pulmonary and staphylococcal skin infections. Its diagnosis requires a high degree of suspicion, typical clinical features, and not mere rise in serum IgE levels. Genetic...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10231702/ https://www.ncbi.nlm.nih.gov/pubmed/37266097 http://dx.doi.org/10.4103/idoj.idoj_472_22 |
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author | Kothari, Rohit Mohamed, Muneer Vivekanandh, K Sandhu, Sunmeet Sinha, Preema Bhatnagar, Anuj |
author_facet | Kothari, Rohit Mohamed, Muneer Vivekanandh, K Sandhu, Sunmeet Sinha, Preema Bhatnagar, Anuj |
author_sort | Kothari, Rohit |
collection | PubMed |
description | Hyper-immunoglobulin E syndrome is a rare primary immunodeficiency syndrome characterized by severe atopic dermatitis, recurrent pulmonary and staphylococcal skin infections. Its diagnosis requires a high degree of suspicion, typical clinical features, and not mere rise in serum IgE levels. Genetic studies are not always possible in a resource poor setting in developing countries. In this case series, all children had recurrent eczematoid rash, secondary infections, multiple episodes of hospitalization for pulmonary infection and raised serum IgE levels. Diagnostic genetic study was feasible in only one of the cases which revealed pathogenic homozygous deletions of exons 15 to 18 (Transcript: NM_203447) in DOCK8 gene. The main goal of management of hyper-immunoglobulin E syndrome is aggressive treatment of infections and optimum skin care. Our case series highlights various characteristic, presentations, and management of this rare syndrome childhood cases. Awareness of these manifestations may facilitate early identification and contribute to optimal care of patients as representative data on the same is limited in literature. |
format | Online Article Text |
id | pubmed-10231702 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-102317022023-06-01 Hyper-Immunoglobulin E Syndrome: Case Series of 6 Children from India Kothari, Rohit Mohamed, Muneer Vivekanandh, K Sandhu, Sunmeet Sinha, Preema Bhatnagar, Anuj Indian Dermatol Online J Case Series Hyper-immunoglobulin E syndrome is a rare primary immunodeficiency syndrome characterized by severe atopic dermatitis, recurrent pulmonary and staphylococcal skin infections. Its diagnosis requires a high degree of suspicion, typical clinical features, and not mere rise in serum IgE levels. Genetic studies are not always possible in a resource poor setting in developing countries. In this case series, all children had recurrent eczematoid rash, secondary infections, multiple episodes of hospitalization for pulmonary infection and raised serum IgE levels. Diagnostic genetic study was feasible in only one of the cases which revealed pathogenic homozygous deletions of exons 15 to 18 (Transcript: NM_203447) in DOCK8 gene. The main goal of management of hyper-immunoglobulin E syndrome is aggressive treatment of infections and optimum skin care. Our case series highlights various characteristic, presentations, and management of this rare syndrome childhood cases. Awareness of these manifestations may facilitate early identification and contribute to optimal care of patients as representative data on the same is limited in literature. Wolters Kluwer - Medknow 2023-04-04 /pmc/articles/PMC10231702/ /pubmed/37266097 http://dx.doi.org/10.4103/idoj.idoj_472_22 Text en Copyright: © 2023 Indian Dermatology Online Journal https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Series Kothari, Rohit Mohamed, Muneer Vivekanandh, K Sandhu, Sunmeet Sinha, Preema Bhatnagar, Anuj Hyper-Immunoglobulin E Syndrome: Case Series of 6 Children from India |
title | Hyper-Immunoglobulin E Syndrome: Case Series of 6 Children from India |
title_full | Hyper-Immunoglobulin E Syndrome: Case Series of 6 Children from India |
title_fullStr | Hyper-Immunoglobulin E Syndrome: Case Series of 6 Children from India |
title_full_unstemmed | Hyper-Immunoglobulin E Syndrome: Case Series of 6 Children from India |
title_short | Hyper-Immunoglobulin E Syndrome: Case Series of 6 Children from India |
title_sort | hyper-immunoglobulin e syndrome: case series of 6 children from india |
topic | Case Series |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10231702/ https://www.ncbi.nlm.nih.gov/pubmed/37266097 http://dx.doi.org/10.4103/idoj.idoj_472_22 |
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