The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects

The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects

Neutropenia congenita grave (SCN) is a rare disease with a genetically and clinically heterogeneous nature, usually diagnosed in childhood, with an elevated risk of infections such as otitis, skin infections, pneumonia, deep abscesses, and septicemia. Patients with SCN also have an increased risk o...

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Bibliographic Details
Main Authors: Fatemeh Arab, Nima Rezaei, Forough Taheri, Hamideh Kouhpeikar, Elham Rayzan, Mona Mirbeyk, Davood Zare‐Abdollahi, Mohsen Ghadami
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2022-06-01
Series:Iranian Journal of Allergy, Asthma and Immunology
Subjects:
ELANE protein
HAX1 protein
HYOU1 protein
Severe congenital neutropenia
SHOC2 protein
Whole exome sequencing
Online Access:https://ijaai.tums.ac.ir/index.php/ijaai/article/view/3493

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