A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa
Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2018/4860902 |
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| author | Pragya Shrestha Geetika Sabharwal Gisoo Ghaffari |
| author_facet | Pragya Shrestha Geetika Sabharwal Gisoo Ghaffari |
| author_sort | Pragya Shrestha |
| collection | DOAJ |
| description | Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa. |
| format | Article |
| id | doaj-art-e7701f3ad6cb4db186066cf5434f11df |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-e7701f3ad6cb4db186066cf5434f11df2025-02-03T01:20:55ZengWileyCase Reports in Immunology2090-66092090-66172018-01-01201810.1155/2018/48609024860902A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis SuppurativaPragya Shrestha0Geetika Sabharwal1Gisoo Ghaffari2Internal Medicine Department, Reading Hospital-Tower Health System, Reading, PA, USADivision of Pulmonary, Allergy, and Critical Care Medicine, Penn State College of Medicine, Hershey, PA, USADivision of Pulmonary, Allergy, and Critical Care Medicine, Penn State College of Medicine, Hershey, PA, USAAlthough Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.http://dx.doi.org/10.1155/2018/4860902 |
| spellingShingle | Pragya Shrestha Geetika Sabharwal Gisoo Ghaffari A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa Case Reports in Immunology |
| title | A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa |
| title_full | A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa |
| title_fullStr | A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa |
| title_full_unstemmed | A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa |
| title_short | A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa |
| title_sort | novel stat3 gene mutation related hyper ige syndrome misdiagnosed as hidradenitis suppurativa |
| url | http://dx.doi.org/10.1155/2018/4860902 |
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