Oral ulcerations in a patient with autosomal dominant hyper-IgE syndrome (AD-HIES)

2020 ◽  
Vol 13 (11) ◽  
pp. e236705
Author(s):  
Johanna Borst ◽  
Lawrence Ma

A 23-year-old woman with autosomal dominant hyper-IgE syndrome complicated by recurrent pneumonia and sinusitis presented with 1 week of multiple painful oral ulcers unresponsive to empiric antiviral and antifungal treatment. Her ulcers progressively worsened and she required hospitalisation for intravenous hydration and pain control. PCR swab of an ulcer was positive for varicella-zoster virus. Her symptoms never fully resolved despite antiviral therapy, and within 2 weeks, she relapsed with new and worsening ulcers. Biopsy revealed chronic active inflammation with no evidence of viral inclusion bodies or fungal hyphae. She was diagnosed with recurrent aphthous stomatitis and referred to a local dentist for CO2 laser treatments with rapid resolution of her symptoms. This case highlights the broad differential for recurrent oral ulcers in people with a primary immunodeficiency. It also raises awareness of the benefits of laser therapy for aphthous stomatitis treatment and the importance of partnering with our colleagues in dentistry.

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
A. Chin ◽  
S. Balasubramanyam ◽  
C. M. Davis

Elevated IgE has been long recognized as an important clinical marker of atopy but can be seen in a myriad of conditions. The discovery of autosomal dominant STAT3 deficiency marked the first recognition of hyper-IgE syndrome (HIES) and the first primary immunodeficiency linked to elevated IgE. Since then, genomic testing has increased the number of defects with associated mutations causing hyper-IgE syndrome and atopic diseases with FLG, DOCK8, SPINK5, and CARD11, among others. A spectrum of recurrent infections and atopy are hallmarks of elevated IgE with significant phenotypic overlap between each underlying condition. As treatment is predicated on early diagnosis, genomic testing is becoming a more commonly used diagnostic tool. We present a 6-year-old male patient with markedly elevated IgE and severe atopic dermatitis presenting with staphylococcal bacteremia found to have a heterozygous variant in FLG (p.S3247X) and multiple variants of unknown significance in BCL11B, ZAP70, LYST, and PTPRC. We review the genetic defects underpinning elevated IgE and highlight the spectrum of atopy and immunodeficiency seen in patients with underlying mutations. Although no one mutation is completely causative of the constellation of symptoms in this patient, we suggest the synergism of these variants is an impetus of disease.


Author(s):  
Olga Staudacher ◽  
Renate Krüger ◽  
Uwe Kölsch ◽  
Stephanie Thee ◽  
Alexander Gratopp ◽  
...  

2016 ◽  
Vol 46 (10) ◽  
pp. 2438-2443 ◽  
Author(s):  
Julio C. Alcántara-Montiel ◽  
Tamara Staines-Boone ◽  
Gabriela López-Herrera ◽  
Laura Berrón-Ruiz ◽  
Carlos R. Borrego-Montoya ◽  
...  

2015 ◽  
Vol 135 (2) ◽  
pp. AB200
Author(s):  
Michael P. O'Connell ◽  
Valerie Hox ◽  
Celeste Nelson ◽  
Thomas DiMaggio ◽  
Nina Jones ◽  
...  

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