Dupilumab for STAT3-Hyper-IgE Syndrome With Refractory Intestinal Complication

AbstractAutosomal dominant hyper-IgE syndrome caused by dominant-negative loss-of-function mutations in signal transducer and activator of transcription factor 3 (STAT3) (STAT3-HIES) is a rare primary immunodeficiency with multisystem pathology. The quality of life in patients with STAT3-HIES is determined by not only the progressive, life-limiting pulmonary disease, but also significant skin disease including recurrent infections and abscesses requiring surgery. Our early report indicated that hematopoietic stem cell transplantation might not be effective in patients with STAT3-HIES, although a few subsequent reports have reported successful outcomes. We update on progress of our patient now with over 18 years of follow-up and report on an additional seven cases, all of whom have survived despite demonstrating significant disease-related pathology prior to transplant. We conclude that effective cure of the immunological aspects of the disease and stabilization of even severe lung involvement may be achieved by allogeneic hematopoietic stem cell transplantation. Recurrent skin infections and abscesses may be abolished. Donor TH17 cells may produce comparable levels of IL17A to healthy controls. The future challenge will be to determine which patients should best be offered this treatment and at what point in their disease history.

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Hyperimmunoglobulin E syndrome presenting as osteogenesis imperfecta in a 3 year old child

Infectious Disease Reports ◽

10.4081/idr.2013.e6 ◽

2013 ◽

Vol 5 (1) ◽

pp. 6

Author(s):

Stephen Gorgas ◽

Walid Abuhammour ◽

R. Alexander Blackwood

Keyword(s):

Early Diagnosis ◽

Osteogenesis Imperfecta ◽

Diagnostic Criteria ◽

Medical Cost ◽

Diagnostic Tests ◽

Medical System ◽

Young Population ◽

Medical Providers ◽

Hyper Ige Syndrome ◽

Serious Infections

We present a case of hyperimmunoglobulin E (hyper-IgE) syndrome in a three year old boy. There are many pitfalls in diagnosing this disease in the very young population, mainly due to the ambiguity of some diagnostic criteria in this population. Recognizing this syndrome early in life can potentially be very beneficial to the patients involved and the medical system as a whole. Early diagnosis can lead to fewer diagnostic tests, fewer referrals, and more focused exams, thus potentially reducing medical cost while also reducing the number of serious infections later in life, including those which are potentially fatal. Additionally, a well-known association between lymphoma and hyper-IgE syndrome has been established; while no recommendations are currently in place for screening, early diagnosis could help medical providers have a higher threshold for diagnosis of this disease.

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