Case Report A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa Pragya Shrestha , 1 Geetika Sabharwal, 2 and Gisoo Ghaffari 2 1 Internal Medicine Department, Reading Hospital-Tower Health System, Reading, PA, USA 2 Division of Pulmonary, Allergy, and Critical Care Medicine, Penn State College of Medicine, Hershey, PA, USA Correspondence should be addressed to Pragya Shrestha; sh.pragya@gmail.com Received 4 June 2018; Accepted 8 August 2018; Published 13 August 2018 Academic Editor: Alessandro Plebani Copyright © 2018 Pragya Shrestha et al. Tis is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Although Hyper-IgE Syndrome (HIES) is a rare immunodefciency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecifc such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and fndings on physical exam can guide towards the diagnosis of this ofen-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. 1. Background Hyper-IgE syndrome (HIES), also commonly known as Job’s syndrome, was frst described by Davis et al. in 1966 as a syndrome associated with severe dermatitis with “cold” abscesses [1, 2]. Subsequently, this was further characterized by typical facial appearance with high levels of immunoglob- ulin E (IgE) by Buckley et al. in 1972 [3]. Since then, additional features of HIES have been recognized and it has since been regarded as a multisystem disorder characterized by chronic eczema, recurrent staphylococcal skin and lungs infections, pneumatocele formation, candidiasis, retained primary teeth, joint hyperextensibility, low bone density with bone fractures, scoliosis, and craniosynostosis [4, 5]. It is a rare immunological disorder with an estimated incidence of 1 in 500,000 to 100,000 individuals [4, 6] with both autosomal dominant (AD) and recessive forms (AR) of inheritance [1, 7]. Mutation in the signal transduction and activation of transcription 3 gene (STAT3) with gain- of-function is the most prevalent mutation described and accounts for majority of its autosomal dominant and sporadic forms [1, 5, 7]. Tyrosine kinase 2 (TYK2) and dedicator of cytokinesis 8 (DOCK8) genes mutations are implicated in recessive forms [7, 8]. Unlike AD-HIES, they have higher predisposition to viral infections, severe atopic eczema, food allergy, neurologic symptoms, and malignancies. [9] National Institute of Health (NIH) clinical HIES scoring system was developed in 1999 based on 19 clinical and laboratory fndings [4]. Tis gave an estimate of likelihood of HIES diagnosis with more than 40 points suggestive of the diagnosis [4, 8]. Genetic study for mutation analysis is the mainstay of diagnosis confrmation. Among the STAT3 gene mutations in literature for AD-HIES, V463E variant of STAT3 gene with a “loss of function” (located at the DNA-binding domain), found in our patient, has neither been published as a pathogenic nor been a benign variant to our knowledge. Te variant was not observed in large population cohorts [10]. 2. Case Presentation A 21-year-old white female was referred to our Allergy- Immunology Clinic for a history of multiple intractable cutaneous abscesses and cysts for several years. She had undergone multiple incision and drainage and had been treated with antibiotics as well as topical and systemic steroids intermittently with minimal relief and developed methi- cillin resistant staphylococcal aureus (MRSA) colonization during the same period. She was at the time clinically Hindawi Case Reports in Immunology Volume 2018, Article ID 4860902, 4 pages https://doi.org/10.1155/2018/4860902