Department of Neonatology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Department of Mechanical Engineering, Australian College of Kuwait, Mishref, Safat 13015, Kuwait; Centre for Infrastructure Engineering, Western Sydney University, Penrith, NSW 2751, Australia.
Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Internal Diseases, Clinical Immunology and Allergy, Kharkiv National Medical University, Kharkiv, Ukraine; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Stockholm, Sweden. Electronic address: email@example.com.
Hyper IgE syndromes (HIESs) are a group of rare inborn errors of immunity with a triad of eczema, increase susceptibility to sinopulmonary and skin infections with high level of IgE serum. Although most of HIESs are sporadic, hereditary types of these disorders have been studied well. There are several distinct immunodeficiency disorders which are phenotypically similar to HIES, and thus make the diagnosis of HIES challenging. In fact, the diagnosis of HIES is typically based on the clinical suspicion and immunological assessments. There is yet no specific curative treatment for most of HIESs at present, and the treatments are mostly standing on early diagnosis and preventive therapies. For instance, the genetic diagnosis is an important module, while, due to DOCK8 mutations, the hematopoietic stem cell transplantation is necessary for patients with autosomal recessive form of HIESs. Herein, we overview HIESs, highlight their peculiar clinical and laboratory features, and finally suggest a practical forthright diagnostic chart for clinical purposes.