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Article

Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.

Iranian journal of allergy, asthma, and immunology - 18 Jun 2022

Saghafi Shiva, Zandieh Fariborz, Fazlollahi Mohammad Reza, Glocker Cristina, Frede Natalie, Buchta Mary, Yang Linlin, Mahmoudi Amir Hossein, Houshmand Massoud, Pourpak Zahra, Grimbacher Bodo, Moin Mostafa

Abstract excerpt

Early diagnosis of primary immunodeficiencies is crucial for timely treatment and preventing unwanted complications. Next-generation sequencing (NGS) and detailed clinical and immunological evaluation can help early detect such disorders. 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...

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PMID: 35822685
DOI: 10.18502/ijaai.v21i3.9809

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