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Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations
This study aimed to confirm the diagnosis of two cases of autosomal recessive hyper-immunoglobulin E (IgE) syndrome (AR-HIES), presenting with irreversible eye involvement. Two unrelated patients with suspected AR-HIES were referred to the Immunology, Asthma and Allergy Research Institute (IAARI), Tehran, Iran. Immunological screening tests were performed for AR-HIES, which showed elevated serum IgE levels, eosinophilia, and low T-lymphocyte responses. NGS was performed, and the results were confirmed by Sanger sequencing. Sequence analysis showed a mutation in intron 17 of the dedicator of cytokinesis 8 (DOCK8) gene in th...
Source: Iranian Journal of Allergy, Asthma and Immunology - July 13, 2022 Category: Allergy & Immunology Authors: Shiva Saghafi Fariborz Zandieh Mohammad Reza Fazlollahi Cristina Glocker Natalie Frede Mary Buchta Linlin Yang Amir Hossein Mahmoudi Massoud Houshmand Zahra Pourpak Bodo Grimbacher Mostafa Moin Source Type: research
