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

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

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 au...

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Bibliographic Details
Main 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
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2022-06-01
Series:Iranian Journal of Allergy, Asthma and Immunology
Subjects:
Cytomegalovirus
DOCK8 protein, human
Hyperimmunoglobulin E syndrome
Retinitis
Online Access:https://ijaai.tums.ac.ir/index.php/ijaai/article/view/3363

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