Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation
Background. Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000 IU/mL), eczema, and recurrent staphylococcal skin and lung infections. The presentation of hyper IgE syndrome is highly variable, which mak...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2014-01-01
|
| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2014/136752 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849412746107420672 |
|---|---|
| author | Chad J. Cooper Sarmad Said German T. Hernandez |
| author_facet | Chad J. Cooper Sarmad Said German T. Hernandez |
| author_sort | Chad J. Cooper |
| collection | DOAJ |
| description | Background. Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels
of IgE (>2000 IU/mL), eczema, and recurrent staphylococcal skin and lung infections. The presentation of hyper IgE syndrome is highly variable,
which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. Case Report. A 23-year-old
Hispanic presented with history of frequent respiratory and gastrointestinal infections as a child and multiple
episodes of skin and lung infections (abscess) with Staphylococcus aureus throughout his adult life. He had
multiple eczematous lesions and folliculitis over his entire body, oral/esophageal candidiasis, and retention of his primary teeth.
The IgE was elevated (>5000 IU/mL). Genetic mutation analysis revealed a mutation affecting the transactivation domain of
the STAT3 gene. Conclusion. The hallmark of hyper IgE syndrome is serum IgE of >2000 IU/mL. Hyper IgE syndrome is a
genetic disorder that is either autosomal dominant or recessive. A definite diagnosis can be made with genetic mutation analysis, and in this case,
it revealed a very rare finding of the transactivation domain STAT3 mutation. Hyper IgE syndrome is a challenge for clinicians in establishing a diagnosis
in suspected cases. |
| format | Article |
| id | doaj-art-54a0a8c2b0984ba195c2cc11b05b4c23 |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-54a0a8c2b0984ba195c2cc11b05b4c232025-08-20T03:34:21ZengWileyCase Reports in Immunology2090-66092090-66172014-01-01201410.1155/2014/136752136752Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 MutationChad J. Cooper0Sarmad Said1German T. Hernandez2Department of Internal Medicine, Texas Tech University Health Sciences Center, 4800 Alberta Avenue, El Paso, TX 79905, USADepartment of Internal Medicine, Texas Tech University Health Sciences Center, 4800 Alberta Avenue, El Paso, TX 79905, USADepartment of Internal Medicine, Texas Tech University Health Sciences Center, 4800 Alberta Avenue, El Paso, TX 79905, USABackground. Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000 IU/mL), eczema, and recurrent staphylococcal skin and lung infections. The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. Case Report. A 23-year-old Hispanic presented with history of frequent respiratory and gastrointestinal infections as a child and multiple episodes of skin and lung infections (abscess) with Staphylococcus aureus throughout his adult life. He had multiple eczematous lesions and folliculitis over his entire body, oral/esophageal candidiasis, and retention of his primary teeth. The IgE was elevated (>5000 IU/mL). Genetic mutation analysis revealed a mutation affecting the transactivation domain of the STAT3 gene. Conclusion. The hallmark of hyper IgE syndrome is serum IgE of >2000 IU/mL. Hyper IgE syndrome is a genetic disorder that is either autosomal dominant or recessive. A definite diagnosis can be made with genetic mutation analysis, and in this case, it revealed a very rare finding of the transactivation domain STAT3 mutation. Hyper IgE syndrome is a challenge for clinicians in establishing a diagnosis in suspected cases.http://dx.doi.org/10.1155/2014/136752 |
| spellingShingle | Chad J. Cooper Sarmad Said German T. Hernandez Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation Case Reports in Immunology |
| title | Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation |
| title_full | Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation |
| title_fullStr | Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation |
| title_full_unstemmed | Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation |
| title_short | Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation |
| title_sort | recurrent skin and lung infections in autosomal dominant hyper ige syndrome with transactivation domain stat3 mutation |
| url | http://dx.doi.org/10.1155/2014/136752 |
| work_keys_str_mv | AT chadjcooper recurrentskinandlunginfectionsinautosomaldominanthyperigesyndromewithtransactivationdomainstat3mutation AT sarmadsaid recurrentskinandlunginfectionsinautosomaldominanthyperigesyndromewithtransactivationdomainstat3mutation AT germanthernandez recurrentskinandlunginfectionsinautosomaldominanthyperigesyndromewithtransactivationdomainstat3mutation |