Clearance of atypical cutaneous manifestations of hyper‐IgE syndrome with dupilumab

Abstract

Hyper-IgE syndromes (HIES) are a heterogeneous group of rare primary immunodeficiency diseases classically characterized by the triad of atopic dermatitis, and recurrent cutaneous and pulmonary infections. Autosomal dominant, loss-of-function STAT3 pathogenic variants are the most common genetic cause, which lead to deficiency of Th17 lymphocytes, impaired interferon gamma production, and IL-10 signal transduction, and an unbalanced IL-4 state. Dupilumab, a monoclonal antibody to the IL-4a receptor, inhibits both IL-4 and IL-13, and has been shown to improve atopic dermatitis and other manifestations of HIES including asthma and allergic bronchopulmonary aspergillosis. We present a pediatric patient with HIES who presented predominantly with eosinophilic folliculitis, recurrent cutaneous infections, and other non-eczematous findings and achieved sustained clearance with dupilumab.

Dupilumab in Inflammatory Skin Diseases: A Systematic Review

“…Of those, seven patients had a mutation of STAT3 , three of DOCK8 and one of ZNF341 . A complete remission of pruritus and skin findings were reported in 10/12 patients andtwo patients showed partial remissions ( Table 7 ) [ 221 , 222 , 223 , 224 , 225 , 226 , 227 , 228 , 229 , 230 , 231 ].…”

Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience

“…Variant pathogenicity was confirmed by in vitro assays. The clinical severity of AD-HIES was evaluated using the National Institute of Health (NIH) score ( 10 ). The severity of atopic dermatitis in the AD-HIES patients was assessed by the Investigator’s Global Assessment (IGA) scale ( 18 ) and Eczema Area and Severity Index (EASI) score ( 18 ).…”

“…Omalizumab, an anti-IgE antibody, was also used to treat patients with AD-HIES and was shown to alleviate respiratory symptoms and pulmonary function tests ( 9 ). However, there is an increasing amount of reports of AD-HIES patients that were successfully treated with dupilumab, an anti-IL-4/IL-13 receptor α subunit monoclonal antibody ( 10 – 17 ).…”

Hyper‐IgE syndrome presenting with early life craniosynostosis in monozygotic twin sisters

“…9 Other treatments include Dupilumab, especially for atypical cutaneous manifestations or severe eczema. 5,12 Hematopoietic stem cell transplantation also appears promising in immune reconstitution and pulmonary and dermatological symptoms; however, postsuccessful transplant, patients have continued to develop muscular skeletal complications (fractures, scoliosis). 8 Craniosynostosis results from the premature closure of one or more sutures of the skull.…”