title: The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome.
abstract: In order to determine the clinical and laboratory findings of Iranian patients with presumed hyper-immunoglobulin E syndrome (HIES), the medical records of 22 patients from 21 unrelated families, who had been registered in the Iranian Primary Immunodeficiency Registry, were observed. The median age of patients at the time of first symptom and at the time of diagnosis was 1 month and 52.5 months, respectively, with a median diagnosis delay of 70 months. 13 families had consanguineous marriages. IgE level was higher than 2000 IU/ml in all patients, ranging from >2000 to 80,000 IU/ml. The most commonly occurring manifestations were: eczema and dermatitis, pneumonia, upper respiratory tract infections, cutaneous abscesses, diarrhoea, deep abscesses, and otitis media. Other less frequent manifestations were: mucocutaneous candidiasis, sinusitis, cutaneous ulcers, Molluscum contagiosum, herpetic keratitis, onychomycosis, conjunctivitis, septic arthritis, and meningitis. Five patients were complicated by bronchiectasis due to recurrent pneumonia and 5 patients died because of severe infections and malignancy. The HIES is a multisystem disorder that affects especially cutaneous, respiratory, skeletal and the immune system. Although HIES is a rare condition, the recurrent infections should always raise a suspicion, which deserves further evaluation for detecting the syndrome.
authors.affiliation: Department of Allergy and Clinical Immunology of Children Medical Centre, Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@hbi.ir
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
authors.forename: Abolhassan
authors.initials: A
authors.lastname: Farhoudi
authors.forename: Masoud
authors.initials: M
authors.lastname: Movahedi
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
authors.forename: Mehdi
authors.initials: M
authors.lastname: Yeganeh
authors.forename: Mohammad
authors.initials: M
authors.lastname: Gharagozlou
authors.forename: Bahram
authors.initials: B
authors.lastname: Mirsaeid Ghazi
authors.forename: Saba
authors.initials: S
authors.lastname: Arshi
authors.forename: Davoud
authors.initials: D
authors.lastname: Mansouri
authors.forename: Roya
authors.initials: R
authors.lastname: Sherkat
authors.forename: Sara
authors.initials: S
authors.lastname: Kashef
authors.forename: Maryam
authors.initials: M
authors.lastname: Mahmoudi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Nabavi
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D007492:Iran; D007589:Job Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D008297:Male
chemical_list: D007073:Immunoglobulin E